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https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#1
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28633906/respiratory-syncytial-virus-rsv-in-adult-emergency-department-patients-do-emergency-providers-consider-rsv-as-an-admission-diagnosis-a-retrospective-observational-study-carried-out-at-massachusetts-general-hospital-boston-ma
#2
William Binder, Jill Thorsen, Pierre Borczuk
BACKGROUND: Respiratory Syncytial Virus (RSV) has been recognized for over half a century as a cause of morbidity in infants and children. Over the past 20years, data has emerged linking RSV as a cause of illness in adults resulting in 177,000 annual hospitalizations and up to 14,000 deaths among older adults. OBJECTIVE: Characterize clinical variables in a cohort of adult RSV patients. We hypothesize that emergency physicians do not routinely consider RSV in the differential diagnosis (DDx) of influenza like illness...
June 11, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28633645/generation-of-populations-of-antigen-specific-cytotoxic-t-cells-using-dcs-transfected-with-dna-construct-encoding-her2-neu-tumor-antigen-epitopes
#3
Maria Kuznetsova, Julia Lopatnikova, Julia Khantakova, Rinat Maksyutov, Amir Maksyutov, Sergey Sennikov
BACKGROUND: Recent fundamental and clinical studies have confirmed the effectiveness of utilizing the potential of the immune system to remove tumor cells disseminated in a patient's body. Cytotoxic T lymphocytes (CTLs) are considered the main effectors in cell-mediated antitumor immunity. Approaches based on antigen presentation to CTLs by dendritic cells (DCs) are currently being intensively studied, because DCs are more efficient in tumor antigen presentation to T cells through their initiation of strong specific antitumor immune responses than other types of antigen-presenting cells...
June 20, 2017: BMC Immunology
https://www.readbyqxmd.com/read/28633314/qualitative-identification-of-fentanyl-analogs-and-other-opioids-in-postmortem-cases-by-uhplc-ion-trap-msn
#4
Elisa N Shoff, M Elizabeth Zaney, Joseph H Kahl, George W Hime, Diane M Boland
Since 2013, the Miami-Dade County Medical Examiner Department has experienced an increase in the number of opioid-related deaths. The majority of cases coincided with the introduction of fentanyl into the local heroin supply. From 2014 to 2015, Miami-Dade County experienced a near 600% increase in fentanyl-related deaths, followed by an additional 200% increase in 2016. In 2015, two novel fentanyl analogs were identified in medical examiner cases: beta-hydroxythiofentanyl and acetyl fentanyl. In 2016, four additional fentanyl analogs emerged: para-fluoroisobutyryl fentanyl, butyryl fentanyl, furanyl fentanyl and carfentanil, as well as the synthetic opioid U-47700...
June 13, 2017: Journal of Analytical Toxicology
https://www.readbyqxmd.com/read/28629766/laparoscopic-assisted-approach-for-penetrating-abdominal-trauma-a-solution-for-multiple-bowel-injuries
#5
Oleh Yevhenovych Matsevych, Modise Zacharia Koto, Colleen Aldous
BACKGROUND: Therapeutic laparoscopy (TL) for penetrating abdominal trauma (PAT) is controversial because the management of multiple bowel injuries is challenging and the conversion rate is high. However, the laparoscopic-assisted approach (LAA) allows easy management of multiple bowel injuries but not investigated in a trauma setting. The aim of this study was to investigate its role in management of multiple bowel injuries and to compare LAA with therapeutic laparoscopy performed fully laparoscopically (FTL)...
June 16, 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28627303/the-surprise-question-in-paediatric-palliative-care-a-prospective-cohort-study
#6
Kimberley Burke, Lucy Helen Coombes, Antoinette Menezes, Anna-Karenia Anderson
BACKGROUND: The question 'would you be surprised if this patient died in the next 12-months' is widely used for identifying adult patients in the last year of life. However, this has not yet been studied in children. AIM: To assess the prognostic accuracy of the surprise question when used by a multidisciplinary team to predict survival outcomes of children with life-limiting conditions over a 3 and 12 month period. DESIGN: A prospective cohort study...
June 1, 2017: Palliative Medicine
https://www.readbyqxmd.com/read/28626086/nursing-skill-mix-in-european-hospitals-cross-sectional-study-of-the-association-with-mortality-patient-ratings-and-quality-of-care
#7
Linda H Aiken, Douglas Sloane, Peter Griffiths, Anne Marie Rafferty, Luk Bruyneel, Matthew McHugh, Claudia B Maier, Teresa Moreno-Casbas, Jane E Ball, Dietmar Ausserhofer, Walter Sermeus
OBJECTIVES: To determine the association of hospital nursing skill mix with patient mortality, patient ratings of their care and indicators of quality of care. DESIGN: Cross-sectional patient discharge data, hospital characteristics and nurse and patient survey data were merged and analysed using generalised estimating equations (GEE) and logistic regression models. SETTING: Adult acute care hospitals in Belgium, England, Finland, Ireland, Spain and Switzerland...
July 2017: BMJ Quality & Safety
https://www.readbyqxmd.com/read/28624766/dhea-protects-mitochondria-against-dual-modes-of-apoptosis-and-necroptosis-in-human-granulosa-ho23-cells
#8
Kuan-Hao Tsui, Peng-Hui Wang, Li-Te Lin, Chia-Jung Li
Because ovarian granulosa cells are essential for oocyte maturation and development, we validated human granulosa HO23 cells to evaluate the ability of the DHEA to prevent cell death after starvation. The present study was aimed to investigate whether DHEA could protect against starvation-induced apoptosis and necroptosis in human oocyte granulosa HO23 cells. The starvation was induced by treatment of serum-free (SF) medium for 4 h in vitro Starvation-induced mitochondrial depolarization, cytochrome c release and caspase-3 activation were largely prevented by DHEA in HO23 cells...
August 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28623639/anemia-after-continuous-flow-left-ventricular-assist-device-implantation-characteristics-and-implications
#9
Javier Amione-Guerra, Ana S Cruz-Solbes, Arvind Bhimaraj, Barry H Trachtenberg, Sai R Pingali, Jerry D Estep, Myung H Park, Ashrith Guha
BACKGROUND: Anemia is common in patients with heart failure and is associated with adverse outcomes. Management of anemia in CF-LVAD patients is not well studied. Our purpose is to characterize and identify the etiology of anemia in CF-LVAD patients. Secondary objectives are to describe the effect of CF-LVAD on pre-existing anemia and assess its impact after CF-LVAD support. METHODS: Cross-sectional study from January to July 2015 of ambulatory patients supported with a CF-LVAD for at least 6-months that presented with hemoglobin <12 g/dL and no recent gastrointestinal bleeding...
June 14, 2017: International Journal of Artificial Organs
https://www.readbyqxmd.com/read/28622481/hospice-visit-patterns-in-the-last-seven-days-of-life-and-the-service-intensity-add-on-payment
#10
Pedro L Gozalo, Joan M Teno, Carol Spence
BACKGROUND: Hospice in-person visits in the last week of life are critical to ensure quality of care. In 2016, The Centers for Medicare & Medicaid Services (CMS) introduced a Service Intensity Add-on (SIA) payment for in-person routine home care (RHC) visits by a registered nurse or social worker in the last 7 days of life. OBJECTIVES: The aim of the study was to examine visit patterns in the last week of life and provide SIA payment impact estimates. DESIGN/MEASUREMENTS: Hospice data from 42 volunteer hospice programs for the 6-year period of 2005-2010 were examined...
June 16, 2017: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/28620499/intrauterine-death-following-intraamniotic-triiodothyronine-and-thyroxine-therapy-for-fetal-goitrous-hypothyroidism-associated-with-polyhydramnios-and-caused-by-a-thyroglobulin-mutation
#11
Pradeep Vasudevan, Corrina Powell, Adeline K Nicholas, Ian Scudamore, James Greening, Soo-Mi Park, Nadia Schoenmakers
In the absence of maternal thyroid disease or iodine deficiency, fetal goitre is rare and usually attributable to dyshormonogenesis, for which genetic ascertainment is not always undertaken in the UK. Mechanical complications include tracheal and oesophageal compression with resultant polyhydramnios, malpresentation at delivery and neonatal respiratory distress. We report an Indian kindred in which the proband (first-born son) had congenital hypothyroidism (CH) without obvious neonatal goitre. His mother's second pregnancy was complicated by fetal hypothyroid goitre and polyhydramnios, prompting amniotic fluid drainage and intraamniotic therapy (with liothyronine, T3 and levothyroxine, T4)...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28619645/introduction-of-arteriovenous-grafts-with-graft-insertion-anastomosis-for-hemodialysis-access
#12
Takuya Hatakeyama, Hiroyuki Okamoto, Tatsu Nakazawa, Tatsuya Nonaka, Sei Sasaki, Masanobu Hoshino
OBJECTIVE: An arteriovenous bridging graft is a viable option for patients with compromised arteries or veins because of advanced age or diabetes. Arteriovenous graft with graft insertion anastomosis (AVGI) is the novel technique for graft-vein anastomosis where the prosthesis is inserted into the vein, and the anastomosis is performed on the surface of the prosthesis. This study assessed the short-term and long-term results of AVGI to clarify the efficacy of this technique. METHODS: Between 2010 and 2015, AVGI was performed in graft-vein anastomosis of prosthetic forearm loop access...
June 12, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28619231/endoplasmic-reticulum-chaperones-tweak-the-mitochondrial-calcium-rheostat-to-control-metabolism-and-cell-death
#13
REVIEW
Tomas Gutiérrez, Thomas Simmen
The folding of secretory proteins is a well-understood mechanism, based on decades of research on endoplasmic reticulum (ER) chaperones. These chaperones interact with newly imported polypeptides close to the ER translocon. Classic examples for these proteins include the immunoglobulin binding protein (BiP/GRP78), and the lectins calnexin and calreticulin. Although not considered chaperones per se, the ER oxidoreductases of the protein disulfide isomerase (PDI) family complete the folding job by catalyzing the formation of disulfide bonds through cysteine oxidation...
May 31, 2017: Cell Calcium
https://www.readbyqxmd.com/read/28616692/a-minimally-invasive-method-for-profiling-volatile-organic-compounds-within-postmortem-internal-gas-reservoirs
#14
Katelynn A Perrault, Pierre-Hugues Stefanuto, Lena M Dubois, Vincent Varlet, Silke Grabherr, Jean-François Focant
In forensic casework, non-invasive and minimally-invasive methods for postmortem examinations are extremely valuable. Whole body postmortem computed tomography (PMCT) is often used to provide visualization of the internal characteristics of a body prior to more invasive procedures and has also been used to locate gas reservoirs inside the body to assist in determining cause of death. Preliminary studies have demonstrated that exploiting the volatile organic compounds (VOCs) located in these gas reservoirs by comprehensive two-dimensional gas chromatography-high-resolution time-of-flight mass spectrometry (GC×GC-HRTOF-MS) may assist in providing information regarding the postmortem interval...
June 15, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28612579/-endovascular-treatment-of-blood-blister-like-aneurysms-in-internal-carotid-artery
#15
Shou-Wei Xiang, Ding Xu, Chao-Hua Wang, Li-Gang Hu, Chang-Wei Zhang, Xiao-Dong Xie
OBJECTIVES: To study the feasibility and effectiveness of endovascular treatment to blood blister-like aneurysms (BBA) in internal carotid artery. METHODS: Retrospective analyzed the clinical features, outcomes, and complications of 20 cases of BBA treated with endovascular intervention techniques from 2013-2015 in our center. RESULTS: The patients were treated with covered stent, internal carotid artery balloon occlusion, and stents assisted coiling, respectively...
January 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28609837/familial-pancreatic-cancer-and-the-future-of-directed-screening
#16
REVIEW
Sara Welinsky, Aimee L Lucas
Pancreatic cancer (PC) is the third most common cause of cancer-related death in the United States and the 12th most common worldwide. Mortality is high, largely due to late stage of presentation and suboptimal treatment regimens. Approximately 10% of PC cases have a familial basis. The major genetic defect has yet to be identified but may be inherited by an autosomal dominant pattern with reduced penetrance. Several known hereditary syndromes or genes are associated with an increased risk of developing PC and account for approximately 2% of PCs...
June 15, 2017: Gut and Liver
https://www.readbyqxmd.com/read/28605024/a-unique-type-of-birth-trauma-mistaken-for-abuse
#17
Carolyn V Isaac, Jered B Cornelison, Rudolph J Castellani, Joyce L deJong
Pediatric abusive head trauma is a challenging subject across many disciplines. Of particular importance is the identification of mimics of abuse, so cause and manner of death can be properly assigned. We present the case of suspected child abuse involving an infant who presented unresponsive to the hospital with hypoglycemia, hypothermia, and bilateral parietal fractures. An autopsy revealed fractures associated with organizing scalp hemorrhage and gross leptomeningeal congestion and hemorrhage. The fractures were circular with external displacement, rounded margins, and subperiosteal new bone formation indicative of healing...
June 12, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28604999/percutaneous-cardiac-support-during-myocardial-infarction-drastically-reduces-mortality-perspectives-from-a-swine-model
#18
Maria Giovanna Trivella, Alessandra Piersigilli, Fabio Bernini, Gualtiero Pelosi, Silvia Burchielli, Stefano Puzzuoli, Claudia Kusmic, Antonio L'Abbate
BACKGROUND/AIMS: Acute myocardial infarction (AMI) with cardiogenic shock (CS) remains the leading cause of in-hospital death in acute coronary syndromes. In the AMI-CS pig model we tested the efficacy of temporary percutaneous cardiorespiratory assist device (PCRA) in rescuing the failing heart and reducing early mortality. METHODS: In open-chest pigs we induced AMI by proximal left anterior descending coronary artery (LAD) ligation. Eight animals without PCRA (C group) were compared with 12 animals otherwise treated with PCRA (T group), starting approximately at 60 minutes post-occlusion and lasting 120-180 minutes...
June 6, 2017: International Journal of Artificial Organs
https://www.readbyqxmd.com/read/28604832/insects-and-associated-arthropods-analyzed-during-medicolegal-death-investigations-in-harris-county-texas-usa-january-2013-april-2016
#19
Michelle R Sanford
The application of insect and arthropod information to medicolegal death investigations is one of the more exacting applications of entomology. Historically limited to homicide investigations, the integration of full time forensic entomology services to the medical examiner's office in Harris County has opened up the opportunity to apply entomology to a wide variety of manner of death classifications and types of scenes to make observations on a number of different geographical and species-level trends in Harris County, Texas, USA...
2017: PloS One
https://www.readbyqxmd.com/read/28604238/financing-national-non-communicable-disease-responses
#20
Luke Nelson Allen
Non-communicable diseases (NCDs) (also known as socially transmitted diseases) were conspicuously absent from the Millennium Development Goals and seemed to miss out on the 'golden years' of health funding despite causing more death and disability than any other disease group worldwide. The share of 'development assistance for health' dedicated to NCDs has remained at 1-2% of the total since 2000. This level of funding is insufficient to attain the nine targets in the World Health Organization (WHO) Global Action Plan on NCDs...
2017: Global Health Action
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