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https://www.readbyqxmd.com/read/28748650/autopsy-findings-in-epg5-related-vici-syndrome-with-antenatal-onset
#1
Renaud Touraine, Annie Laquerrière, Carmen-Adina Petcu, Florent Marguet, Susan Byrne, Rachael Mein, Shu Yau, Shehla Mohammed, Laurent Guibaud, Mathias Gautel, Heinz Jungbluth
Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in EPG5 encoding a key autophagy regulator with a crucial role in autophagosome-lysosome fusion. The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, callosal agenesis, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency. Clinical course is variable but usually progressive and associated with high mortality...
July 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28748276/resuming-the-obsolete-term-small-head-when-microcephaly-occurs-without-cognitive-impairment
#2
Piero Pavone, Andrea D Praticò, Martino Ruggieri, Renata Rizzo, Raffaele Falsaperla
Microcephaly is defined as a head circumference measurement of 2 or 3 standard deviations below the mean for age and sex. However, distinguishing the value of -2 or -3 standard deviations as a cutoff is relevant in the clinical practice, since the limit of -3 standard deviations is more frequently associated with cognitive impairment. The use of ultrasound scans in pregnancy has allowed the identification of subjects with a measurement of the head circumference at the limit of the cutoff for gestational age, but who do not subsequently show cognitive delay...
July 26, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28746529/ultrasound-guided-intrapleural-positioning-of-pleural-catheters-influence-on-immediate-lung-expansion-and-pleurodesis-in-patients-with-recurrent-malignant-pleural-effusion
#3
Pedro Henrique Xavier Nabuco de Araujo, Ricardo Mingarini Terra, Thiago da Silva Santos, Rodrigo Caruso Chate, Antonio Fernando Lins de Paiva, Paulo Manuel Pêgo-Fernandes
Objective: To evaluate the role of intrapleural positioning of a pleural catheter in early lung expansion and pleurodesis success in patients with recurrent malignant pleural effusion (RMPE). Methods: This was a retrospective study nested into a larger prospective cohort study including patients with RMPE recruited from a tertiary university teaching hospital between June of 2009 and September of 2014. The patients underwent pleural catheter insertion followed by bedside pleurodesis...
May 2017: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/28744840/organ-dynamics-and-fluid-dynamics-of-the-hh25-chick-embryonic-cardiac-ventricle-as-revealed-by-a-novel-4d-high-frequency-ultrasound-imaging-technique-and-computational-flow-simulations
#4
Sheldon Ho, Germaine Xin Yi Tan, Toon Jin Foo, Nhan Phan-Thien, Choon Hwai Yap
Past literature has provided evidence that a normal mechanical force environment of blood flow may guide normal development while an abnormal environment can lead to congenital malformations, thus warranting further studies on embryonic cardiovascular flow dynamics. In the current study, we developed a non-invasive 4D high-frequency ultrasound technique, and use it to analyze cardiovascular organ dynamics and flow dynamics. Three chick embryos at stage HH25 were scanned with high frequency ultrasound in cine-B-mode at multiple planes spaced at 0...
July 25, 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/28743440/the-use-of-intrapartum-ultrasound-to-diagnose-malpositions-and-cephalic-malpresentations
#5
REVIEW
Federica Bellussi, Tullio Ghi, Aly Youssef, Ginevra Salsi, Francesca Giorgetta, Dila Parma, Giuliana Simonazzi, Gianluigi Pilu
Fetal malpositions and cephalic malpresentations are a well recognized cause of failure to progress in labor. They frequently require operative delivery, and are associated with an increased probability of fetal and maternal complications. Traditional obstetrics emphasizes the role of digital examinations, but recent studies have demonstrated that this approach is inaccurate and that intrapartum ultrasound is far more precise. The objective of this review is to summarize the current body of literature and provide recommendations to identify malpositions and cephalic malpresentations with ultrasound...
July 22, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28742875/the-significance-of-inadequate-transcranial-doppler-studies-in-children-with-sickle-cell-disease
#6
Simon Greenwood, Colin Deane, Oliver L Rees, Ben Freedman, Suresh Kumar, Naser Ben Ramadan, Sarah Wilkinson, Grant Marais, Julie Lord, Subarna Chakravorty, Susan E Height, Kate Gardner, David C Rees
Sickle cell disease (SCD) is a common cause of cerebrovascular disease in childhood. Primary stroke prevention is effective using transcranial Doppler (TCD) scans to measure intracranial blood velocities, and regular blood transfusions or hydroxycarbamide when these are abnormal. Inadequate TCD scans occur when it is not possible to measure velocities in all the main arteries. We have investigated the prevalence and significance of this in a retrospective audit of 3915 TCD scans in 1191 children, performed between 2008 and 2015...
2017: PloS One
https://www.readbyqxmd.com/read/28741649/the-effect-of-metrics-based-feedback-on-acquisition-of-sonographic-skills-relevant-to-performance-of-ultrasound-guided-axillary-brachial-plexus-block
#7
O M A Ahmed, T Niessen, B D O'Donnell, A G Gallagher, D S Breslin, A DunnGalvin, G D Shorten
The objective of this study was to examine the effect of metrics-based vs. non-metrics-based feedback on novices learning predefined competencies for acquisition and interpretation of sonographic images relevant to performance of ultrasound-guided axillary brachial plexus block. Twelve anaesthetic trainees were randomly assigned to either metrics-based-feedback or non-metrics-based feedback groups. After a common learning phase, all participants attempted to perform a predefined task that involved scanning the left axilla of a single volunteer...
July 25, 2017: Anaesthesia
https://www.readbyqxmd.com/read/28740429/comparative-diagnostic-accuracy-of-18f-fdg-pet-ct-for-breast-cancer-recurrence
#8
REVIEW
Roberta Piva, Flavia Ticconi, Valentina Ceriani, Federica Scalorbi, Francesco Fiz, Selene Capitanio, Matteo Bauckneht, Giuseppe Cittadini, Gianmario Sambuceti, Silvia Morbelli
In the last decades, in addition to conventional imaging techniques and magnetic resonance imaging (MRI), (18)F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) has been shown to be relevant in the detection and management of breast cancer recurrence in doubtful cases in selected groups of patients. While there are no conclusive data indicating that imaging tests, including FDG PET/CT, produce a survival benefit in asymptomatic patients, FDG PET/CT can be useful for identifying the site of relapse when traditional imaging methods are equivocal or conflicting and for identifying or confirming isolated loco-regional relapse or isolated metastatic lesions...
2017: Breast Cancer: Targets and Therapy
https://www.readbyqxmd.com/read/28740395/diagnostic-reliability-of-pediatric-appendicitis-score-ultrasound-and-low-dose-computed-tomography-scan-in-children-with-suspected-acute-appendicitis
#9
Ashraf Othman Sayed, Nancy Selim Zeidan, Dalia Monir Fahmy, Hossam A Ibrahim
BACKGROUND: Diagnosis of appendicitis in children is clinically challenging. Computed tomography (CT) is the gold standard for diagnosis; however, radiation exposure early in life is a concern with this technique. Therefore, in this study, we aimed to evaluate the diagnostic reliability of low-dose CT, pediatric appendicitis score (PAS), and abdominal ultrasound (US) in children with acute appendicitis, to reach a safe diagnosis. PATIENTS AND METHODS: This retrospective study was conducted on 140 children who were admitted with clinically suspected acute appendicitis (45 with positive appendicitis and 95 children with negative appendicitis)...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28739753/application-of-ultrasound-guided-core-needle-biopsy-in-the-diagnosis-of-t3-or-t4-stage-laryngeal-and-hypopharyngeal-cancer
#10
Yunqiang Wang, Dajian Li, Ruihua Liu, Chuanliang Jia, Aihua Jiang, Yayun Lv, Shufen Xu, Hua Zhang, Xiaoli Cao, Xicheng Song
AIM: To study the value of ultrasound-guided core needle biopsy (CNB) in the diagnosis of T3 or T4 stage laryngeal and hypopharyngeal cancer, which is difficult by routine methods. PATIENTS AND METHODS: Nineteen cases of T3 or T4 stage laryngeal or hypopharyngeal carcinoma with abnormal pharyngeal sensitivity, severe dyspnea, submucous cancer recurrence, cardiovascular and pulmonary dysfunction were reviewed retrospectively from October 2012 to October 2014 in the Yuhuangding Hospital of Qingdao University...
August 2017: Anticancer Research
https://www.readbyqxmd.com/read/28739469/acute-venous-iliofemoral-thrombosis-early-surgical-thrombectomy-is-effective-and-durable
#11
Stefan Ockert, Matthias von Allmen, Michaela Heidemann, Juliette Brusa, Jan Duwe, Robert Seelos
BACKGROUND: The first-line recommendation for treatment of acute iliofemoral deep vein thrombosis (IFDVT) is catheter-directed or pharmaco-mechanical thrombolysis (CDT/PCDT). Recent analysis of surgical thrombectomy has shown comparable results. However this procedure is not commonly given as much importance as interventional techniques. We analyzed patient outcome of surgical thrombectomy using modern endovascular techniques in both the short and long term. METHODS: All consecutive patients who underwent surgical thrombectomy at our institution between April 2008 and April 2017 were included...
July 21, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28738239/delayed-graft-duodenal-perforation-due-to-impacted-food-five-years-after-simultaneous-pancreas-kidney-transplantation-a-case-report
#12
Taizo Sakata, Hideki Katagiri, Tadao Kubota, Takashi Sakamoto, Kentaro Yoshikawa, Alan Kawarai Lefor, Cheol Woong Jung, Toru Kojima
INTRODUCTION: Pancreas transplantation is the best treatment option in selected patients with type 1 diabetes mellitus. Here we report a patient with a nonmarginal duodenal perforation five years after a simultaneous pancreas-living donor kidney transplantation (SPLKT). PRESENTATION OF CASE: A 31-year old male who underwent SPLKT five years previously presented with severe abdominal pain. He had a marginal duodenal perforation four years later, treated by primary closure and drainage...
July 14, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28737304/investigation-and-diagnostic-formulation-in-patients-admitted-with-transient-loss-of-consciousness
#13
R Briggs, T Coughlan, J Doherty, D R Collins, D O'Neill, S P Kennelly
Several commonly completed tests have low diagnostic yield in the setting of transient loss of consciousness (T-LOC). We estimated the use and cost of inappropriate investigations in patients admitted with T-LOC and assessed if these patients were given a definitive diagnosis for their presentation. We identified 80 consecutive patients admitted with T-LOC to a university teaching hospital. Eighty-eight percent (70/80) had a computerized topography (CT) brain scan and 49% (34/70) of these scans were inappropriate based on standard guidelines...
May 10, 2017: Irish Medical Journal
https://www.readbyqxmd.com/read/28737199/-giant-splenic-cyst-in-a-teenager-girl-case-report
#14
Beatriz Martínez Torres, Manuel Medina García, Miguel Ángel Zafra Anta, Alejandro José García Muñoz-Najar, Juan C Tardío Dovao
Giant nonparasitic splenic epidermoid cysts are relatively uncommon. These lesions can lead abdominal pain, but most of then are asymptomatic, and they are discovered incidentally. We report a 13-y old female with a giant splenic epidermoid cystic, given the special interest of diagnostic and therapeutic decision-making of this rare entity. CASE REPORT: A 13-y old female with clinical history of abdominal pain since the last two months. On physical examination a firm, tender mass was palpable in left hypochondrium...
June 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28735375/perioperative-practices-concerning-one-anastomosis-mini-gastric-bypass-a-survey-of-210-surgeons
#15
Kamal K Mahawar, Kuldeepak Singh Kular, Chetan Parmar, Michael Van den Bossche, Yitka Graham, William R J Carr, Brijesh Madhok, Conor Magee, Sanjay Purkayastha, Peter K Small
BACKGROUND: There is currently little evidence available on the perioperative practices concerning one anastomosis/mini gastric bypass (OAGB/MGB) and no published consensus amongst experts. Even the published papers are not clear on these aspects. The purpose of this study was to understand various perioperative practices concerning OAGB/MGB. METHODS: Bariatric surgeons from around the world were invited to participate in a questionnaire-based survey. Only surgeons performing this procedure were included...
July 22, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28733022/preparation-and-sonophotocatalytic-performance-of-hierarchical-bi2wo6-structures-and-effects-of-various-factors-on-the-rate-of-rhodamine-b-degradation
#16
Liuying Liang, Yalkunjan Tursun, Aisha Nulahong, Talifu Dilinuer, Awuti Tunishaguli, Ge Gao, Abulizi Abulikemu, Kenji Okitsu
Hierarchical Bi2WO6 structures with high surface area were prepared in the presence of polyvinylpyrrolidone by using an optimized hydrothermal method. The samples prepared were characterized by X-ray diffraction, field-emission scanning electron microscopy and N2 adsorption-desorption technique. The results of these characterizations showed the formation of the hierarchical Bi2WO6 structures with high surface area (51m(2)/g). The degradation of Rhodamine B (RhB) with or without visible light was investigated under various experimental conditions to evaluate the sonophotocatalytic activity of the hierarchical Bi2WO6 structures...
November 2017: Ultrasonics Sonochemistry
https://www.readbyqxmd.com/read/28733021/sonochemical-synthesis-and-structural-characterization-of-a-new-nanostructured-co-ii-supramolecular-coordination-polymer-with-lewis-base-sites-as-a-new-catalyst-for-knoevenagel-condensation
#17
Monika Joharian, Sedigheh Abedi, Ali Morsali
A new Co(II) mixed-ligand coordination supramolecular polymer with composition [Co2(ppda)(4-bpdh)2(NO3)2]n (1) (where, ppda=p-phenylenediacrylic acid, 4-bpdh=2,5-bis(4-pyridyl)-3,4-diaza-2,4-hexadiene) was synthesized using solvothermal, mechanochemical and sonochemical methods. Compound 1 and the new nanostructure have been characterized by single-crystal X-ray, infrared spectroscopy (IR), powder X-ray diffraction (PXRD) analysis and scanning electron microscopy (SEM). The thermal stability of compound 1 was also studied by thermal gravimetric analysis (TGA)...
November 2017: Ultrasonics Sonochemistry
https://www.readbyqxmd.com/read/28732988/sonochemical-synthesis-of-two-nanostructured-silver-i-coordination-polymers-based-on-semi-rigid-bis-benzimidazole-ligands
#18
Shao Yun Hao, Yue Hua Li, Zeng Chuan Hao, Guang Hua Cui
Nanoparticles of two silver(I) coordination polymers (CPs), [Ag2(L1)2(DCTP)]n (1) and [Ag2(L2)(DCTP)]n (2) (L1=1,3-bis(5,6-dimethylbenzimidazol-1-ylmethyl)benzene, L2=1,4-bis(benzimidazol-1-yl)-2-butene, H2DCTP=2,5-dichloroterephthalic acid), were synthesized by the sonochemical approach and hydrothermal method. Both CPs were characterized by elemental analysis, IR spectra, single-crystal X-ray diffraction, scanning electron microscopy (SEM), and thermogravimetric analyses (TGA). CP 1 exhibits a 2D 4-connected sql net with the point symbol {4(4)...
November 2017: Ultrasonics Sonochemistry
https://www.readbyqxmd.com/read/28732981/sonochemical-effect-on-two-new-ruthenium-ii-complexes-with-ligand-e-n-6-bromopyridin-2-yl-methylene-4-methylthio-aniline-precursors-for-synthesis-of-ruo2-nanoparticles
#19
Chang Jin, Fahime Bigdeli, Kuan-Guan Liu, Hosein Ghasempour, Mao-Lin Hu, Ali Morsali
Two novel Ru(II) complexes [(η(6)-p-cymene)RuCl(L2)]PF6 (R2) and [(η(6)-C6H6)RuCl(L2)]PF6 (R4), with ligand (E)-N-((6-bromopyridin-2-yl)methylene)-4-(methylthio)aniline (L2), were synthesized and characterized by elemental analysis, (1)H NMR, (13)C NMR and IR spectroscopy. Based on X-ray crystallography studies, complexes R2 and R4 have coordination environments with formulated (η(6)-p-cymene)Ru(N2Cl) and (η(6)-C6H6)Ru(N2Cl), respectively. The thermal stabilities of compounds R2 and R4 were studied by thermal gravimetric (TG) and differential scanning calorimetry (DSC)...
November 2017: Ultrasonics Sonochemistry
https://www.readbyqxmd.com/read/28732980/synthesis-of-amine-modified-zeolitic-imidazolate-framework-8-ultrasound-assisted-dye-removal-and-modeling
#20
Jafar Abdi, Manouchehr Vossoughi, Niyaz Mohammad Mahmoodi, Iran Alemzadeh
The present research is focused on the ultrasound assisted adsorption of Acid blue 92 (AB92) and Direct red 80 (DR80) as anionic dyes in single and binary systems onto zeolitic imidazolate framework (ZIF-8) functionalized with 3-Aminopropyltrimethoxysilane (APTES). Different techniques such as Fourier transform infrared (FTIR), scanning electron microscope (SEM), field emission scanning electron microscopy (FE-SEM), X-ray diffraction (XRD), Brunauer-Emmett-Teller (BET) and thermogravimetric analyses (TGA) were used to characterize the prepared adsorbent...
November 2017: Ultrasonics Sonochemistry
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