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https://www.readbyqxmd.com/read/28550909/readability-complexity-and-suitability-of-online-resources-for-mastectomy-and-lumpectomy
#1
Bao Ngoc N Tran, Mansher Singh, Dhruv Singhal, Rima Rudd, Bernard T Lee
BACKGROUND: Nearly half of American adults have low or marginal health literacy. This negatively affects patients' participation, decision-making, satisfaction, and overall outcomes especially when there is a mismatch between information provided and the skills of the intended audience. Recommendations that patient information be written below the sixth grade level have been made for over three decades. This study compares online resources for mastectomy versus lumpectomy using expanded metrics including readability level, complexity, and density of data and overall suitability for public consumption...
May 15, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28550350/recent-advances-in-the-study-of-immunodeficiency-and-dna-damage-response
#2
REVIEW
Tomohiro Morio
DNA breaks can be induced by exogenous stimuli or by endogenous stress, but are also generated during recombination of V, D, and J genes (V(D)J recombination), immunoglobulin class switch recombination (CSR). Among various DNA breaks generated, DNA double strand break (DSB) is the most deleterious one. DNA damage response (DDR) is initiated when DSBs are detected, leading to DNA break repair by non-homologous end joining (NHEJ). The process is critically important for the generation of diversity for foreign antigens; and failure to exert DNA repair leads to immunodeficiency such as severe combined immunodeficiency and hyper-IgM syndrome...
May 26, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28550310/a-to-i-editing-in-human-mirnas-is-enriched-in-seed-sequence-influenced-by-sequence-contexts-and-significantly-hypoedited-in-glioblastoma-multiforme
#3
Deepanjan Paul, Ashis Narayan Sinha, Arjun Ray, Megha Lal, Subhashree Nayak, Anchal Sharma, Bharati Mehani, Debasish Mukherjee, Saurabh V Laddha, Ashish Suri, Chitra Sarkar, Arijit Mukhopadhyay
Editing in microRNAs, particularly in seed can significantly alter the choice of their target genes. We show that out of 13 different human tissues, different regions of brain showed higher adenosine to inosine (A-to-I) editing in mature miRNAs. These events were enriched in seed sequence (73.33%), which was not observed for cytosine to uracil (17.86%) editing. More than half of the edited miRNAs showed increased stability, 72.7% of which had ΔΔG values less than -6.0 Kcal/mole and for all of them the edited adenosines mis-paired with cytosines on the pre-miRNA structure...
May 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28550027/exceptional-response-to-nivolumab-and-stereotactic-body-radiation-therapy-sbrt-in-neuroendocrine-cervical-carcinoma-with-high-tumor-mutational-burden-management-considerations-from-the-center-for-personalized-cancer-therapy-at-uc-san-diego-moores-cancer-center
#4
Andrew Sharabi, Sangwoo Shawn Kim, Shumei Kato, Philip D Sanders, Sandip Pravin Patel, Parag Sanghvi, Elizabeth Weihe, Razelle Kurzrock
Neuroendocrine carcinoma of the cervix is an ultra-rare malignancy with a poor prognosis and limited treatment options. Checkpoint blockade immunotherapy has rapidly developed into an emerging standard of care for several common disease types. Interestingly, in preclinical and retrospective clinical data, radiation therapy has been demonstrated to synergize with checkpoint inhibitors. Here we report a patient with metastatic, chemotherapy-refractory neuroendocrine carcinoma who presented with partial bowel obstruction due to a large tumor burden...
May 26, 2017: Oncologist
https://www.readbyqxmd.com/read/28549902/does-corrective-spine-surgery-improve-the-standing-balance-in-patients-with-adult-spinal-deformity
#5
Mitsuru Yagi, Hideaki Ohne, Shinjiro Kaneko, Masafumi Machida, Yoshiyuki Yato, Takashi Asazuma
BACKGROUND CONTEXT: The effect of corrective spine surgery on standing stability in adult spinal deformity (ASD) has not been fully documented. PURPOSE: To compare pre- and postoperative standing balance and posture in patients with ASD. STUDY DESIGN/SETTING: Prospective case series. PATIENT SAMPLE: Standing balance before and after corrective spine surgery was compared in 35 consecutive female patients with ASD (65...
May 23, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28548127/mismatch-repair-deficiency-commonly-precedes-adenoma-formation-in-lynch-syndrome-associated-colorectal-tumorigenesis
#6
Shigeki Sekine, Taisuke Mori, Reiko Ogawa, Masahiro Tanaka, Hiroshi Yoshida, Hirokazu Taniguchi, Takeshi Nakajima, Kokichi Sugano, Teruhiko Yoshida, Mamoru Kato, Eisaku Furukawa, Atsushi Ochiai, Nobuyoshi Hiraoka
Lynch syndrome is a cancer predisposition syndrome caused by germline mutations in mismatch repair (MMR) genes. MMR deficiency is a ubiquitous feature of Lynch syndrome-associated colorectal adenocarcinomas; however, it remains unclear when the MMR-deficient phenotype is acquired during tumorigenesis. To probe this issue, the present study examined genetic alterations and MMR statuses in Lynch syndrome-associated colorectal adenomas and adenocarcinomas, in comparison with sporadic adenomas. Among the Lynch syndrome-associated colorectal tumors, 68 of 86 adenomas (79%) and all adenocarcinomas were MMR-deficient, whereas all the sporadic adenomas were MMR-proficient, as determined by microsatellite instability testing and immunohistochemistry for MMR proteins...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28546462/alternative-donor-graft-sources-for-adults-with-hematologic-malignancies-a-donor-for-all-patients-in-2017
#7
REVIEW
Tamila L Kindwall-Keller, Karen K Ballen
Hematopoietic stem cell transplant (HSCT) is potentially curative for a wide variety of malignant diseases, including acute and leukemias, lymphoma, and myelodysplasia. Choice of a stem cell donor is dependent on donor availability, donor compatibility and health, recipient disease type, and recipient condition. Current sources of stem cell donation for HSCT are matched sibling donors (MSDs), matched unrelated donors (MUDs), 1-antigen mismatched unrelated donors (MMUDs), haploidentical donors (haplo), and umbilical cord blood (UCB) units...
May 25, 2017: Oncologist
https://www.readbyqxmd.com/read/28543448/successful-treatment-of-pure-red-cell-aplasia-because-of-abo-major-mismatched-stem-cell-transplant
#8
Katie Sackett, Claudia S Cohn, Kayla Fahey-Ahrndt, Angela R Smith, Andrew D Johnson
BACKGROUND: Pure red cell aplasia (PRCA) is a well-documented potential side effect of ABO major mismatched allogeneic hematopoietic stem cell transplants. This side effect may be self-limiting, but is sometimes treated using modalities such as steroids, antithymocyte globulin, donor lymphocyte infusions, rituximab, or plasma exchanges. Another well-documented cause of pure red cell aplasia is a chronic parvovirus B19 infection, which may be seen in immunocompromised hosts. The treatment of this cause of PRCA includes removal of immunosuppression, intravenous immunoglobulin (IVIg), or rituximab; however, this condition may also be self-limiting...
May 24, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28542101/clinical-impact-of-t1-slope-minus-cervical-lordosis-following-multilevel-posterior-cervical-fusion-surgery-a-minimum-2-year-follow-up-data
#9
Seung-Jae Hyun, Ki-Jeong Kim, Tae-Ahn Jahng, Hyun-Jib Kim
STUDY DESIGN: Retrospective study. OBJECTIVE: To assess the longer term relationship between sagittal alignment of the cervical spine and patient-reported health-related quality-of-life (HRQOL) scores following multilevel posterior cervical fusion, and to explore whether an analog of T1 slope - C2-C7 lordosis ('T1S-CL') impacts on patients' clinical outcomes. SUMMARY OF BACKGROUND DATA: A 6-month follow-up study demonstrated that, similar to the thoracolumbar spine, the severity of disability increases with sagittal malalignment following cervical reconstruction surgery...
May 25, 2017: Spine
https://www.readbyqxmd.com/read/28541890/event-triggered-model-predictive-control-for-embedded-artificial-pancreas-systems
#10
Ankush Chakrabarty, Stamatina Zavitsanou, Francis Doyle Iii, Eyal Dassau
OBJECTIVE: The development of artificial pancreas (AP) technology for deployment in low-energy, embedded devices is contingent upon selecting an efficient control algorithm for regulating glucose in people with type 1 diabetes mellitus (T1DM). In this paper, we aim to lower the energy consumption of the AP by reducing controller updates, that is, the number of times the decision-making algorithm is invoked to compute an appropriate insulin dose. METHODS: Physiological insights into glucose management are leveraged to design an event-triggered model predictive controller (MPC) that operates efficiently, without compromising patient safety...
May 23, 2017: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28541443/the-impact-of-multidisciplinary-care-on-early-morbidity-and-mortality-after-heart-transplantation
#11
Marie Schmidhauser, Julien Regamey, Nathalie Pilon, Manuel Pascual, Sam Rotman, Carlo Banfi, René Prêtre, Philippe Meyer, Jean-Philippe Antonietti, Roger Hullin
OBJECTIVES: The impact of multidisciplinary care on outcome after heart transplantation (HTx) remains unclear. METHODS: This retrospective study investigates the impact of multidisciplinary care on the primary end point 1-year all-cause mortality (ACM) and the secondary end point mean acute cellular rejection (ACR) grade within the first postoperative year. RESULTS: This study includes a total 140 HTx recipients (median age: 53.5 years; males: 80%; donor/recipient gender mismatch: 38...
May 24, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28539123/multilevel-genomics-of-colorectal-cancers-with-microsatellite-instability-clinical-impact-of-jak1-mutations-and-consensus-molecular-subtype-1
#12
Anita Sveen, Bjarne Johannessen, Torstein Tengs, Stine A Danielsen, Ina A Eilertsen, Guro E Lind, Kaja C G Berg, Edward Leithe, Leonardo A Meza-Zepeda, Enric Domingo, Ola Myklebost, David Kerr, Ian Tomlinson, Arild Nesbakken, Rolf I Skotheim, Ragnhild A Lothe
BACKGROUND: Approximately 15% of primary colorectal cancers have DNA mismatch repair deficiency, causing a complex genome with thousands of small mutations-the microsatellite instability (MSI) phenotype. We investigated molecular heterogeneity and tumor immunogenicity in relation to clinical endpoints within this distinct subtype of colorectal cancers. METHODS: A total of 333 primary MSI+ colorectal tumors from multiple cohorts were analyzed by multilevel genomics and computational modeling-including mutation profiling, clonality modeling, and neoantigen prediction in a subset of the tumors, as well as gene expression profiling for consensus molecular subtypes (CMS) and immune cell infiltration...
May 24, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28538444/changes-in-cervical-alignment-after-multilevel-schwab-grade-ii-thoracolumbar-osteotomies-for-adult-spinal-deformity
#13
George M Ghobrial, Nathan H Lebwohl, Barth A Green, Joseph P Gjolaj
STUDY DESIGN: Retrospective Cohort OBJECTIVE.: To describe changes in cervical alignment(CA) and deformity (CD) after multilevel Schwab Grade II Osteotomies for adult spinal deformity (ASD). SUMMARY OF BACKGROUND DATA: Reciprocal cervical and global changes after ASD surgery have not been previous described in the setting of multilevel osteotomy. METHODS: Patients with long-segment (> 5 levels) fusion and osteotomy for ASD were radiographically evaluated...
May 19, 2017: Spine
https://www.readbyqxmd.com/read/28538224/transcortical-sensory-aphasia-after-left-frontal-lobe-infarction-loss-of-functional-connectivity
#14
Miseon Kwon, Woo Hyun Shim, Sang-Joon Kim, Jong S Kim
BACKGROUND: The underlying mechanism of transcortical sensory aphasia (TSA) caused by lesions occurring in the left frontal lobe remains unclear. We attempted to investigate the mechanism with the use of functional MRI (fMRI). METHODS: We studied 2 patients with TSA after a left frontal infarction identified by diffusion-weighted MRI. As control subjects, a patient with transcortical motor aphasia and a healthy normal adult were chosen. The Korean version of Western Aphasia Battery was performed initially and at 3 months post stroke...
May 25, 2017: European Neurology
https://www.readbyqxmd.com/read/28537014/usefulness-of-pet-ct-for-early-detection-of-internal-malignancies-in-patients-with-muir-torre-syndrome-report-of-two-cases
#15
Yui Ishiguro, Shigenori Homma, Tadashi Yoshida, Yosuke Ohno, Nobuki Ichikawa, Hideki Kawamura, Hiroo Hata, Satoru Kase, Susumu Ishida, Hiromi Okada-Kanno, Kanako C Hatanaka, Akinobu Taketomi
BACKGROUND: Muir-Torre syndrome (MTS) is a rare autosomal dominant genodermatosis caused by mutations in mismatch repair genes. It is characterized by the presence of at least one sebaceous skin tumor associated with internal malignancies. Whether positron emission tomography/computed tomography (PET/CT) is useful for the detection of malignancies in patients with MTS has not been determined. We herein report two cases in which PET/CT was useful for the diagnosis and follow-up of internal malignancies in patients with MTS...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28536927/involvement-of-the-dna-mismatch-repair-system-in-cisplatin-sensitivity-of-testicular-germ-cell-tumours
#16
Christiane Rudolph, Cecilie Melau, John E Nielsen, Kristina Vile Jensen, Dekang Liu, Javier Pena-Diaz, Ewa Rajpert-De Meyts, Lene Juel Rasmussen, Anne Jørgensen
BACKGROUND: Testicular germ cell tumours (TGCT) are highly sensitive to cisplatin-based chemotherapy, but patients with tumours containing differentiated teratoma components are less responsive to this treatment. The cisplatin sensitivity in TGCT has previously been linked to the embryonic phenotype in the majority of tumours, although the underlying mechanism largely remains to be elucidated. The aim of this study was to investigate the role of the DNA mismatch repair (MMR) system in the cisplatin sensitivity of TGCT...
May 23, 2017: Cellular Oncology (Dordrecht)
https://www.readbyqxmd.com/read/28536477/reduced-mismatch-negativity-is-associated-with-increased-plasma-level-of-glutamate-in-first-episode-psychosis
#17
Tatsuya Nagai, Kenji Kirihara, Mariko Tada, Daisuke Koshiyama, Shinsuke Koike, Motomu Suga, Tsuyoshi Araki, Kenji Hashimoto, Kiyoto Kasai
Reduced amplitude of mismatch negativity (MMN) is one of the more promising biological markers of schizophrenia. This finding holds true in both early and chronic phases of the disorder, and is compatible with the glutamatergic dysfunction hypothesis. To further establish MMN as a biomarker of aberrant glutamatergic neurotransmission, an exploration for an association with blood levels of glutamatergic amino acids is an important next step. Despite a large body of work investigating MMN in schizophrenia, no previous studies have undertaken this endeavor...
May 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28535788/endexpiratory-lung-volume-measurement-correlates-with-the-ventilation-perfusion-mismatch-in-lung-injured-pigs
#18
Jens Kamuf, Andreas Garcia-Bardon, Bastian Duenges, Tanghua Liu, Antje Jahn-Eimermacher, Florian Heid, Matthias David, Erik K Hartmann
BACKGROUND: In acute respiratory respiratory distress syndrome (ARDS) a sustained mismatch of alveolar ventilation and perfusion (VA/Q) impairs the pulmonary gas exchange. Measurement of endexpiratory lung volume (EELV) by multiple breath-nitrogen washout/washin is a non-invasive, bedside technology to assess pulmonary function in mechanically ventilated patients. The present study examines the association between EELV changes and VA/Q distribution and the possibility to predict VA/Q normalization by means of EELV in a porcine model...
May 23, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28532686/mismatch-negativity-mmn-to-spatial-deviants-and-behavioral-spatial-discrimination-ability-in-the-etiology-of-auditory-verbal-hallucinations-and-thought-disorder-in-schizophrenia
#19
Megan A Perrin, Joshua T Kantrowitz, Gail Silipo, Elisa Dias, Omar Jabado, Daniel C Javitt
Persistent auditory verbal hallucinations (AVH) in schizophrenia are increasingly tied to dysfunction at the level of auditory cortex. AVH may reflect in part misattribution of internally generated thoughts to external spatial locations. Here, we investigated the association between persistent AVH and spatial localization abilities assessed both behaviorally and by mismatch negativity (MMN) to location deviants. METHODS: Spatial- and tonal- discrimination abilities were assessed in patients (n=20) and controls (n=20) using free-field tones...
May 19, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28531214/suspected-lynch-syndrome-associated-msh6-variants-a-functional-assay-to-determine-their-pathogenicity
#20
Hellen Houlleberghs, Anne Goverde, Jarnick Lusseveld, Marleen Dekker, Marco J Bruno, Fred H Menko, Arjen R Mensenkamp, Manon C W Spaander, Anja Wagner, Robert M W Hofstra, Hein Te Riele
Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nonsense and frameshift mutations that clearly abrogate MMR activity. However, missense mutations whose functional implications are unclear are also frequently seen in suspected-LS patients. To conclusively diagnose LS and enroll patients in appropriate surveillance programs to reduce morbidity as well as mortality, the functional consequences of these variants of uncertain clinical significance (VUS) must be defined...
May 22, 2017: PLoS Genetics
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