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https://www.readbyqxmd.com/read/28749478/molecular-autopsy-in-maternal-fetal-medicine
#1
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Zain Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed Kurdi, Mais Hashem, Tarfa Alshidi, Eman Al-Obeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El-Akouri, Mariam Al Mulla, Tawfeg Ben-Omran, Matthias Pergande, Sebahattin Cirak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih, Fowzan S Alkuraya
PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.e., through parental testing.ResultsPathogenic or likely pathogenic variants were identified in 22 families (50%), and variants of unknown significance were identified in further 15 families (34%)...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28741119/treatable-genetic-metabolic-epilepsies
#2
REVIEW
Lama Assi, Youssef Saklawi, Pascale E Karam, Makram Obeid
In the absence of a culprit epileptogenic lesion, pharmacoresistant seizures should prompt the physician to consider potentially treatable metabolic epilepsies, especially in the presence of developmental delays. Even though the anti-seizure treatment of the epilepsies remains symptomatic and usually tailored to an electroclinical phenotype rather than to an underlying etiology, a thorough metabolic workup might reveal a disease with an etiology-specific treatment. Early diagnosis is essential in the case of treatable metabolic epilepsies allowing timely intervention...
September 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28736725/intraoperative-radiation-therapy-a-promising-treatment-modality-in-head-and-neck-cancer
#3
REVIEW
Lara Hilal, Karine A Al Feghali, Paul Ramia, Ibrahim Abu Gheida, Jean-Pierre Obeid, Wassim Jalbout, Bassem Youssef, Fady Geara, Youssef H Zeidan
Every year, almost 62,000 are diagnosed with a head and neck cancer (HNC) and 13,000 will succumb to their disease. In the primary setting, intraoperative radiation therapy (IORT) can be used as a boost in select patients in order to optimize local control. Addition of external beam radiation to limited volumes results in improved disease control over surgery and IORT alone. In the recurrent setting, IORT can improve outcomes from salvage surgery especially in patients previously treated with external beam radiation...
2017: Frontiers in Oncology
https://www.readbyqxmd.com/read/28726135/increasing-bile-duct-injury-and-decreasing-utilization-of-intraoperative-cholangiogram-and-common-bile-duct-exploration-over-14%C3%A2-years-an-analysis-of-outcomes-in-new-york-state
#4
Maria S Altieri, Jie Yang, Nabeel Obeid, Chencan Zhu, Mark Talamini, Aurora Pryor
INTRODUCTION: During laparoscopic cholecystectomy (LC), common bile duct (CBD) visualization either directly or with cholangiography (IOC) is less routine. Cholangiography can be used to identify and possibly prevent bile duct injury (BDI), which is a dreaded complication of cholecystectomy. The purpose of our study was to evaluate the trend of IOC/CBD exploration and BDI during LC for benign disease. METHODS: A state-wide database (SPARCS) was used to identify all LC for benign biliary non-obstructive and obstructive disease between 2000 and 2014 in the state of New York...
July 19, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28712733/long-term-outcomes-after-autogenous-versus-synthetic-lower-extremity-bypass-in-patients-on-hemodialysis
#5
Isibor Arhuidese, Caitlin W Hicks, Satinderjit Locham, Tammam Obeid, Besma Nejim, Mahmoud B Malas
BACKGROUND: Hemodialysis dependence confers unique physiologic conditions. Prior reports of outcomes after infrainguinal open bypass operations in patients on hemodialysis have been based on relatively small sample institutional series. In this study, we evaluate long-term outcomes after open bypass operations in a large contemporary population-based cohort of hemodialysis patients. We studied all hemodialysis patients who underwent infrainguinal open operation using autogenous versus prosthetic conduits in the United States Renal Data System between January 2007 and December 2011...
July 13, 2017: Surgery
https://www.readbyqxmd.com/read/28711369/predicting-failure-to-rescue-after-abdominal-aortic-aneurysm-repair-in-elderly-patients
#6
Caitlin W Hicks, Anna O'Kelly, Tammam Obeid, Satinderjit Locham, Mahmoud B Malas
BACKGROUND: We aim to describe trends in failure to rescue (FTR) among elderly patients undergoing elective open aortic aneurysm repair (OAR) and endovascular aortic aneurysm repair (EVAR). MATERIALS AND METHODS: All patients aged ≥80 y recorded in the Vascular Quality Initiative database (2002-2014) undergoing nonruptured infrarenal AAA repair were included. Primary outcome was FTR, defined as percentage of deaths in patients who had a complication within 30 d of surgery...
July 12, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28707016/patterns-of-reoperation-after-failed-fundoplication-an-analysis-of-9462-patients
#7
Nabeel R Obeid, Maria S Altieri, Jie Yang, Jihye Park, Kristie Price, Andrew Bates, Aurora D Pryor
BACKGROUND: Little is known about the choice of reoperation after failed fundoplication for gastroesophageal reflux disease. Both redo fundoplication and conversion procedure to Roux-en-Y gastric bypass (RYGB) are safe and effective. We aimed to characterize the rates of different revisional procedures and to identify risk factors associated with failed fundoplication. METHODS: Using a statewide database, we examined records for patients who underwent fundoplication between 2000 and 2010...
July 13, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28684347/the-adult-deformity-surgery-complexity-index-adsci-a-valid-tool-to-quantify-the-complexity-of-posterior-adult-spinal-deformity-surgery-and-predict-postoperative-complications
#8
Ferran Pellisé, Alba Vila-Casademunt, Susana Núñez-Pereira, Montse Domingo-Sàbat, Juan Bagó, Xavier Vidal, Ahmet Alanay, Emre Acaroglu, Frank Kleinstück, Ibrahim Obeid, Francisco J S Pérez-Grueso, Virginie Lafage, Shay Bess, Christopher Ames, Anne F Mannion
BACKGROUND CONTEXT: In 2008, Mirza et al. designed and validated the first and only index capable of quantifying the complexity of spine surgery. However, this index is not fully applicable to adult spinal deformity (ASD) surgery, since it does not include the surgical techniques most commonly used and most strongly associated with perioperative complications in ASD patients. PURPOSE: The objective of this study is to develop an "Adult Deformity Surgery Complexity Index" (ADSCI), to quantify objectively the complexity of the ASD posterior surgery...
July 3, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28652336/structure-of-human-nsmase2-reveals-an-interdomain-allosteric-activation-mechanism-for-ceramide-generation
#9
Michael V Airola, Prajna Shanbhogue, Achraf A Shamseddine, Kip E Guja, Can E Senkal, Rohan Maini, Nana Bartke, Bill X Wu, Lina M Obeid, Miguel Garcia-Diaz, Yusuf A Hannun
Neutral sphingomyelinase 2 (nSMase2, product of the SMPD3 gene) is a key enzyme for ceramide generation that is involved in regulating cellular stress responses and exosome-mediated intercellular communication. nSMase2 is activated by diverse stimuli, including the anionic phospholipid phosphatidylserine. Phosphatidylserine binds to an integral-membrane N-terminal domain (NTD); however, how the NTD activates the C-terminal catalytic domain is unclear. Here, we identify the complete catalytic domain of nSMase2, which was misannotated because of a large insertion...
July 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28649599/semi-automated-annotation-of-signal-events-in-clinical-eeg-data
#10
S Yang, S López, M Golmohammadi, I Obeid, J Picone
To be effective, state of the art machine learning technology needs large amounts of annotated data. There are numerous compelling applications in healthcare that can benefit from high performance automated decision support systems provided by deep learning technology, but they lack the comprehensive data resources required to apply sophisticated machine learning models. Further, for economic reasons, it is very difficult to justify the creation of large annotated corpora for these applications. Hence, automated annotation techniques become increasingly important...
December 2016: ... IEEE Signal Processing in Medicine and Biology Symposium. IEEE Signal Processing in Medicine and Biology Symposium
https://www.readbyqxmd.com/read/28649598/an-analysis-of-two-common-reference-points-for-eegs
#11
S López, A Gross, S Yang, M Golmohammadi, I Obeid, J Picone
Clinical electroencephalographic (EEG) data varies significantly depending on a number of operational conditions (e.g., the type and placement of electrodes, the type of electrical grounding used). This investigation explores the statistical differences present in two different referential montages: Linked Ear (LE) and Averaged Reference (AR). Each of these accounts for approximately 45% of the data in the TUH EEG Corpus. In this study, we explore the impact this variability has on machine learning performance...
December 2016: ... IEEE Signal Processing in Medicine and Biology Symposium. IEEE Signal Processing in Medicine and Biology Symposium
https://www.readbyqxmd.com/read/28608503/acute-radiation-oesophagitis-associated-with-2-deoxy-2-18f-fluoro-d-glucose-uptake-on-positron-emission-tomography-ct-during-chemo-radiation-therapy-in-patients-with-non-small-cell-lung-cancer
#12
Sarah Everitt, Jason Callahan, Eman Obeid, Rodney J Hicks, Michael Mac Manus, David Ball
INTRODUCTION: Acute radiation oesophagitis (ARO) is frequently experienced by patients receiving concurrent chemo-radiation therapy (cCRT) for non-small-cell lung cancer (NSCLC). We investigated ARO symptoms (CTCAE v3.0), radiation dose and oesophageal FDG PET/CT uptake. METHOD: Candidates received cCRT (60 Gy, 2 Gy/fx) and sequential FDG PET/CT (baseline FDG0 , FDGwk2 and FDGwk4 ). Mean and maximum standardized uptake value (SUVmean and SUVmax) and radiation dose (Omean and Omax ) were calculated within the whole oesophagus and seven sub-regions (5-60 Gy)...
June 13, 2017: Journal of Medical Imaging and Radiation Oncology
https://www.readbyqxmd.com/read/28597300/proximal-junctional-kyphosis-in-adult-scoliosis-comparison-of-four-radiological-predictor-models
#13
Amer Sebaaly, Guillaume Riouallon, Ibrahim Obeid, Pierre Grobost, Maroun Rizkallah, Fethi Laouissat, Yann-Phillippe Charles, Pierre Roussouly
OBJECTIVE: The objective of this retrospective study is to identify the best immediate postoperative radiological predictors for the occurrence of proximal junctional kyphosis (PJK). Four proposed methods will be explored. METHODS: A homogeneous database of adult scoliosis from multiple centers was used. Patients with whole spine X-rays at the required follow-up (FU) periods were included. Spinal and pelvic parameters were measured and calculated to compare four predictive methods: Method 1: assessment of the global sagittal alignment (GSA); Method 2: restoration of the theoretical values of lumbar lordosis (LL) and thoracic kyphosis (TK) according to pelvic incidence (PI); Method 3: evaluation of TK + LL, and Method 4: restoration of the apex of sagittal LL to its theoretical values according to various spine shapes in Roussouly Classification...
June 9, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28593146/cholesterol-granuloma-of-the-abdominal-wall-an-unusual-finding-in-the-setting-of-renal-cell-carcinoma
#14
Robert Abraham Obeid, Daniel James Hoppe, Tamer Jacob Dafashy, Rebecca Elaine Waters, Susan Elizabeth Tarry
Cholesterol granulomas are composed of a distinct type of granulation tissue that contains lipids and cholesterol crystals. They are not believed to be a pathological entity, but rather an inflammatory tissue reaction to the presence of trapped blood secondary to localized hemorrhage.(1) Cholesterol granulomas can be identified histologically by the presence of multi-nucleated giant cells, hemosiderin, and red blood cells along with their associated break-down products.(1) Recognizing cholesterol granulomas can provide clinical utility as they demonstrate a tendency to mimic carcinoma both clinically and radiologically...
July 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28570823/formulation-of-nonionic-surfactant-vesicles-nisv-prepared-by-microfluidics-for-therapeutic-delivery-of-sirna-into-cancer-cells
#15
Mohammad A Obeid, Ashref Elburi, Louise C Young, Alexander B Mullen, Rothwelle J Tate, Valerie A Ferro
Small interfering RNAs (siRNA) have a broad potential as therapeutic agents to reversibly silence any target gene of interest. The clinical application of siRNA requires the use of safe and effective delivery systems. In this study, we investigated the use of nonionic surfactant vesicles (NISV) for the delivery of siRNA. Different types of NISV formulations were synthesized by microfluidic mixing and then evaluated for their physiochemical properties and cytotoxicity. The ability of the NISV to carry and transfect siRNA targeting green fluorescent protein (GFP) into A549 that stably express GFP (copGFP-A549) was evaluated...
June 8, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28554809/five-year-outcomes-of-the-first-distal-uninstrumented-vertebra-after-posterior-fusion-for-adolescent-idiopathic-scoliosis-lenke-1-or-2
#16
J-L Clément, F Solla, C Morin, W Lakhal, J Sales de Gauzy, J Leroux, J-M Gennari, F H Parent, G Kreichati, S Wolf, I Obeid, A Tran
BACKGROUND: Tilt of the first distal uninstrumented vertebra (FDUV) reflects changes in the main curve and compensatory lumbar curve after posterior fusion to treat thoracic adolescent idiopathic scoliosis (AIS). HYPOTHESIS: FDUV tilt 5 years or more post-fusiondepends chiefly on reduction of the maincurve and on other factors such as selection of the last instrumented vertebra. MATERIAL AND METHOD: A multicentre retrospective cohort of 182 patients with Lenke 1 or 2 AIStreated with posterior instrumentation and followed up for a mean of 8 years and a minimum of 5 years was studied...
May 26, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28542100/global-spinal-alignment-in-patients-with-cervical-spondylotic-myelopathy
#17
Go Yoshida, Abdulmajeed Alzakri, Vincent Pointillart, Louis Boissiere, Ibrahim Obeid, Yukihiro Matsuyama, Jean Marc Vital, Olivier Gille
STUDY DESIGN: Prospective radiographic analysis of cervical spondylotic myelopathy (CSM) OBJECTIVE.: To clarify the pathophysiology of CSM, and use the characteristic of global spinal alignment for determining the surgical strategy. SUMMARY OF BACKGROUND DATA: Radiographic evaluation of CSM, in general, comprises cervical magnetic resonance imaging (MRI) and regional cervical radiography, which cannot distinguish between cervical hyperlodorsis with spinopelvic compensation and cervical lordorsis with normal global alignment...
May 24, 2017: Spine
https://www.readbyqxmd.com/read/28537129/perioperative-outcomes-of-thoracic-outlet-syndrome-surgical-repair-in-a-nationally-validated-database
#18
Besma Nejim, Husain N Alshaikh, Isibor Arhuidese, Tammam Obeid, Ying Wei Lum, Joseph Canner, Satinderjit S Locham, Mahmoud Malas
We evaluated the occurrence of thoracic outlet syndrome (TOS) and 30-day postoperative outcomes. Patients undergoing cervical/first rib resection surgery were identified in the American College of Surgeons National Surgical Quality Improvement Program database (2005-2013). Thoracic outlet syndrome types were then examined. Propensity score matching was performed to account for potential confounders; 1180 patients were explored during the study period, 1007 (85.3%) were of the neurogenic TOS (NTOS), 32 (2.7%) patients had arterial TOS (ATOS), and 141 (12...
July 2017: Angiology
https://www.readbyqxmd.com/read/28513591/zinc-is-a-potent-and-specific-inhibitor-of-ifn-%C3%AE-3-signalling
#19
Scott A Read, Kate S O'Connor, Vijay Suppiah, Chantelle L E Ahlenstiel, Stephanie Obeid, Kristina M Cook, Anthony Cunningham, Mark W Douglas, Philip J Hogg, David Booth, Jacob George, Golo Ahlenstiel
Lambda interferons (IFNL, IFN-λ) are pro-inflammatory cytokines important in acute and chronic viral infection. Single-nucleotide polymorphisms rs12979860 and rs8099917 within the IFNL gene locus predict hepatitis C virus (HCV) clearance, as well as inflammation and fibrosis progression in viral and non-viral liver disease. The underlying mechanism, however, is not defined. Here we show that the rs12979860 CC genotype correlates with increased hepatic metallothionein expression through increased systemic zinc levels...
May 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28501656/perioperative-outcomes-of-open-versus-endovascular-repair-for-ruptured-thoracoabdominal-aneurysms
#20
Satinderjit S Locham, Joshua C Grimm, Isibor J Arhuidese, Besma Nejim, Tammam Obeid, James H Black, Mahmoud B Malas
BACKGROUND: Open aneurysm repair (OAR) remains the gold standard for treating ruptured thoracoabdominal aortic aneurysms (TAAAs). The aim of our study is to compare the 30-day postoperative outcomes among patients with ruptured TAAA undergoing OAR versus endovascular aneurysm repair. METHODS: Using the National Surgical Quality Improvement Program database (2006-2015), we identified patients who underwent OAR and endovascular repair for a ruptured TAAA. Postoperative outcomes of interest included mortality, renal failure, stroke, and cardiopulmonary complications...
May 10, 2017: Annals of Vascular Surgery
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