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https://www.readbyqxmd.com/read/27913496/discussing-and-managing-hematologic-germ-line-variants
#1
Wendy Kohlmann, Joshua D Schiffman
With the introduction of genomic technologies, more hereditary cancer syndromes with hematologic malignancies are being described. Up to 10% of hematologic malignancies in children and adults may be the result of an underlying inherited genetic risk. Managing these patients with hereditary hematologic malignancies, including familial leukemia, remains a clinical challenge because there is little information about these relatively rare disorders. This article covers some of the issues related to the diagnosis and interpretation of variants associated with hereditary hematologic malignancies, including the importance of an accurate family history in interpreting genetic variants associated with disease...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913485/congenital-and-acquired-bleeding-disorders-in-pregnancy
#2
Terry B Gernsheimer
Obstetrical hematology represents challenges not only for the patient, but also for her progeny. In particular, bleeding disorders, both congenital and acquired, not only present problems both for delivery and in the immediate postpartum period, but also may have significant implications for the fetus and neonate. Women with congenital bleeding disorders or who are carriers of X-linked or autosomal disorders should be counseled prior to conception so that pregnancy can be safely undertaken with careful preparation...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913464/new-challenges-in-evaluating-anemia-in-older-persons-in-the-era-of-molecular-testing
#3
David P Steensma
Anemia is common in older persons, and often remains unexplained despite a thorough clinical history, physical examination, and focused laboratory testing, including marrow aspiration, biopsy, and karyotyping. The advent of molecular genetic testing panels in hematology clinical practice has complicated the evaluation of older patients with unexplained anemia. While the presence of a somatic mutation provides evidence of clonal hematopoiesis and may support a diagnosis of a hematologic neoplasm such as one of the myelodysplastic syndromes (MDS), with rare exceptions, individual mutations are not strongly associated with one specific diagnosis, nor are they by themselves diagnostic of neoplasia...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27911985/hemorrhagic-hemostatic-and-thromboelastometric-disorders-in-35-dogs-with-a-clinical-diagnosis-of-leptospirosis-a-prospective-study
#4
A Barthélemy, M Magnin, C Pouzot-Nevoret, J-M Bonnet-Garin, M Hugonnard, I Goy-Thollot
BACKGROUND: Leptospirosis in dogs is occasionally associated with a hemorrhagic syndrome, the pathophysiology of which is not fully understood. HYPOTHESIS/OBJECTIVES: To characterize hematologic, hemostatic, and thromboelastometric abnormalities in dogs with leptospirosis and to study their association with hemorrhagic diatheses and outcomes. ANIMALS: Thirty-five client-owned dogs. METHODS: A prospective observational single cohort study was conducted...
December 2, 2016: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/27910184/clinical-significance-of-pre-transplant-circulating-cd3-cd4-cd161-cell-frequency-on-the-occurrence-of-neutropenic-infections-after-allogeneic-stem-cell-transplantation
#5
Tae Woo Kim, Sung-Eun Lee, Ji-Young Lim, Da-Bin Ryu, Young-Woo Jeon, Jae-Ho Yoon, Byung-Sik Cho, Ki-Seong Eom, Yoo-Jin Kim, Hee-Je Kim, Seok Lee, Seok-Goo Cho, Dong-Wook Kim, Jong Wook Lee, Woo-Sung Min, Chang-Ki Min
BACKGROUND: Few studies have been performed to identify factors that are associated with an increased risk of infections during the neutropenic period in patients undergoing allogeneic stem cell transplantation (allo-SCT). The aim of this study was to identify the host immune cells responsible for infections before engraftment. METHODS: A total of 282 patients who underwent allo-SCT were enrolled. Peripheral blood samples were collected before conditioning therapy...
December 2, 2016: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/27905684/the-effect-of-maternal-and-infant-factors-on-cord-blood-yield
#6
REVIEW
Seyed Hadi Mousavi, Saeid Abroun, Morteza Zarrabi, Mona Ahmadipanah
Umbilical cord blood (CB) can be used as an alternative hematopoietic stem cell source for transplantation in hematological malignancy and blood disorders. The success of transplantation is highly related to the levels of total nucleated cell and CD34(+) cell counts. The evaluation of optimal conditions can decrease the rate of graft rejection due to low cell count and increases the quality of CB units (CBUs) in the blood bank and the success rate of engraftment. To this end, we review the maternal and infant parameters affecting the quality and quantity of CBUs...
December 1, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27905258/hla-mismatched-haploidentical-transplantation-using-low-dose-anti-thymocyte-globulin-atg-thymoglobulin
#7
Shinichi Kako, Yu Akahoshi, Naonori Harada, Hirofumi Nakano, Kazuaki Kameda, Tomotaka Ugai, Ryoko Yamasaki, Hidenori Wada, Yuko Ishihara, Koji Kawamura, Kana Sakamoto, Miki Sato, Masahiro Ashizawa, Kiriko Terasako-Saito, Shun-Ichi Kimura, Misato Kikuchi, Hideki Nakasone, Rie Yamazaki, Junya Kanda, Yoshinobu Kanda
Objectives To clarify optimal strategies for human leukocyte antigen (HLA)-mismatched haploidentical hematopoietic stem cell transplantation (HSCT). Methods Twelve patients who underwent HSCT from a haploidentical related donor using low-dose thymoglobulin were analyzed retrospectively. Thymoglobulin was added to conditioning regimens at 2.5 mg/kg/day for 2 days (days -4 and -3). Prophylaxis against graft-versus-host disease (GVHD) was performed with cyclosporine and methotrexate. Results The median age of the patients was 33 years...
December 1, 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27904555/effects-of-aerobic-exercise-on-hematologic-indices-of-women-with-rheumatoid-arthritis-a-randomized-clinical-trial
#8
Yaser Jafari Shapoorabadi, Babak Vahdatpour, Mansour Salesi, Hadiseh Ramezanian
BACKGROUND: To investigate the effects of moderate aerobic exercise on the hemoglobin, hematocrit, and red blood cell (RBC) mass of women with rheumatoid arthritis (RA). MATERIALS AND METHODS: This randomized clinical trial was conducted at the Specialized Clinic of Physical Medicine and Rehabilitation, Al-Zahra Hospital of Isfahan, during a 4-month period in 2014. We included patients with RA who did not have any malignancy and hematologic disorder. Two groups - one group receiving aerobic therapy along with medical therapy (N = 16) and the other group receiving medical therapy alone (N = 17) both for a period of 8 weeks...
2016: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/27902471/autophagy-autophagy-associated-adaptive-immune-responses-and-its-role-in-hematologic-malignancies
#9
REVIEW
Liangshun You, Shenhe Jin, Li Zhu, Wenbin Qian
Autophagy is a tightly regulated catabolic process that leads to the degradation of cytoplasmatic components such as aggregated/misfolded proteins and organelles through the lysosomal machinery. Recent studies suggest that autophagy plays such a role in the context of the anti-tumor immune response, make it an attractive target for cancer immunotherapy. Defective autophagy in hematopoietic stem cells may contribute to the development of hematologic malignancies, including leukemia, myelodysplastic syndrome, and lymphoproliferative disorder...
November 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/27900962/association-of-conjunctival-and-corneal-calcification-with-vascular-calcification-among-hepatitis-c-seropositive-hemodialysis-patients
#10
Khaled AbouSeif, Dawlat Sany, Yasser Elshahawy, Ayman Seddik, Khedr Rahman, Moustapha Gaber
Disorders associated with the hepatitis C virus (HCV) have been reported including cardiovascular, metabolic, and central nervous system diseases. Since chronic HCV infections may be curable, their identification as causal contributors to cardiovascular risk could offer new perspectives in the prevention of cardiovascular disease. The aim of this study is to investigate the association between HCV and aortic arch calcification (AAC) and corneal and conjunctival calcification (CCC) in maintenance hemodialysis (MHD) patients; further, we assessed the correlation of CCC with vascular calcification...
November 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27895930/obstetric-patients-in-intensive-care-unit-perspective-from-a-teaching-hospital-in-pakistan
#11
Rahat Qureshi, Sheikh Irfan Ahmed, Amir Raza, Ayesha Khurshid, Uzma Chishti
OBJECTIVE: Review of obstetric cases admitted to the intensive care unit. DESIGN: Ten year retrospective review of individual patients' medical records. PARTICIPANTS: Records of obstetric patients admitted from 2005-2014. SETTING: Aga Khan University Hospital Karachi. MAIN OUTCOME MEASURES: Diagnosis at the time of admission, associated risk factors, and intervention required aspects of management and rate of mortality...
November 2016: JRSM Open
https://www.readbyqxmd.com/read/27895769/unusual-lower-back-pain-with-monocytosis-a-case-report
#12
Sheng-Cheng Wu, Tzu-Chuan Huang, Wen-Ya Yu, Yi-Ying Wu
There are numerous causes of lower back pain. In the oncological setting, spine metastasis from a solid tumor is the most common. However, hematological disorders should also be taken into consideration. The current study presents a case of chronic myelomonocytic leukemia with the initial presentation of chronic lower back pain, followed by symptoms that included urinary retention, stool incontinence and left gum swelling, in a patient who was eventually diagnosed with granulocytic sarcoma (GS) over the sacral region...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27895004/predictors-of-vascular-cognitive-impairment-poststroke-in-a-middle-eastern-bahrain-cohort-a-proposed-case-control-comparison
#13
Claire Donnellan, Mona Al Banna, Noor Redha, Adel Al Jishi, Isa Al Sharoqi, Safa Taha, Moiz Bakhiet, Fatema Abdulla, Patrick Walsh
BACKGROUND: Poststroke dementia and cognitive impairment are associated with poor long-term outcomes after stroke. The contribution of genetic factors such as the presence of apolipoprotein (ApoE) ɛ4 allele and its association with cognitive impairment poststroke remains inconclusive, particularly in Middle Eastern regions. OBJECTIVE: The aim of this study is to examine all correlates and potential predictors of cognitive impairment including self-awareness and regulation deficits in stroke patients and compare these functions with healthy older adults from a Middle Eastern population...
November 28, 2016: JMIR Research Protocols
https://www.readbyqxmd.com/read/27893467/bullous-pyoderma-gangrenosum-with-subungual-involvement-associated-with-ulcerative-colitis
#14
Ezgi Aktaş Karabay, Asl Aksu Cerman, İlknur Kvanc Altunay, Özben Yalçn
Pyoderma gangrenosum (PG) is a rare inflammatory and ulcerative skin disease of unknown etiology characterized by neutrophilic infiltration of the dermis, mainly affecting the lower extremities. Bullous PG is a rare variant of this disease, usually associated with hematologic disorders. Here, we report a case of pathergy-positive bullous PG with subungual involvement associated with ulcerative colitis.
November 22, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27893466/cd30-expression-is-rare-in-myeloid-leukemia-cutis-a-study-of-55-cases-and-implications-for-routine-diagnostic-algorithms
#15
Olakunle Ogunrinade, David Terrano, April Chiu, Melissa Pulitzer
Expression of CD30 in blastoid cutaneous infiltrates typically signifies a CD30 lymphoproliferative disorder, often requiring minimal immunohistochemical workup, if clinically consonant. However, myeloid and other hematologic malignancies often express CD30. We retrospectively examined the prevalence of CD30 expression in 41 patients (median age 59) and 55 biopsies with the diagnosis of leukemia cutis (LC) to determine whether an extensive immunohistochemical workup is warranted in all large, round cell CD30 cutaneous infiltrates...
November 22, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27892767/epigenetic-modifications-in-multiple-myeloma-recent-advances-on-the-role-of-dna-and-histone-methylation
#16
Nicola Amodio, Patrizia D'Aquila, Giuseppe Passarino, Pierfrancesco Tassone, Dina Bellizzi
Multiple Myeloma (MM) is a clonal late B-cell disorder accounting for about 13% of hematological cancers and 1% of all neoplastic diseases. Recent studies on the molecular pathogenesis and biology of MM have highlighted a complex epigenomic landscape contributing to MM onset, prognosis and high individual variability. Areas covered: We describe here the current knowledge on epigenetic events characterizing MM initiation and progression, focusing on the role of DNA and histone methylation and on the most promising epi-therapeutic approaches targeting the methylation pathway...
November 28, 2016: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/27890383/-autoimmune-and-inflammatory-disorders-associated-with-lymphoid-hematological-malignancies
#17
E Grignano, A Mekinian, V Jachiet, P Coppo, O Fain
In this literature review, we reported autoimmune and inflammatory disorders associated with lymphoid hematological malignancies, including non-Hodgkin's lymphoma, Hodgkin's lymphoma and chronic lymphocytic leukemia. The different types of systemic involvement are classified by affected organ. We listed in this review the joint diseases, skin, neurologic, hematologic, renal, and vasculitis. We tried to determine whether there is a correlation between each autoimmune manifestation and a specific type of lymphoma or a particular feature that may support a paraneoplastic origin, if there is an impact on the prognosis of the hematological malignancy, and finally, we identified the different therapeutic strategies used in the literature...
November 24, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27889060/autosomal-recessive-mutations-in-ap3b2-adaptor-related-protein-complex-3-beta-2-subunit-cause-an-early-onset-epileptic-encephalopathy-with-optic-atrophy
#18
Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, Caroline Paris, Jessica Douglas, Gaetan Lesca, Stylianos Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, Catherine Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Laurence Faivre, Julien Thevenon
Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age. Among a cohort of 57 individuals with epileptic encephalopathy, we ascertained two unrelated affected individuals with EOEE associated with developmental impairment and autosomal-recessive variants in AP3B2 by means of whole-exome sequencing...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27888540/higher-dose-of-cd34-peripheral-blood-stem-cells-is-associated-with-better-survival-after-haploidentical-stem-cell-transplantation-in-pediatric-patients
#19
Yao Chen, Lan-Ping Xu, Kai-Yan Liu, Huan Chen, Yu-Hong Chen, Xiao-Hui Zhang, Yu Wang, Feng-Rong Wang, Wei Han, Jing-Zhi Wang, Chen-Hua Yan, Xiao-Jun Huang
Haploidentical stem cell transplantation (SCT) is increasingly used to treat pediatric patients with malignant or non-malignant hematological disorders. The CD34+ dose of bone marrow or peripheral blood stem cells (PBSCs) has been shown to be an important determinant of the transplant outcome in adults under various preparative regimens. However, knowledge of the effect of the CD34+ dose in pediatric haploidentical SCT is limited. We analyzed the data of 348 pediatric patients (aged 2-18 years) with acute or chronic leukemia, myelodysplastic syndrome (MDS), and other hematological disorders that received a transplant between 2002 and 2012...
November 26, 2016: Clinical Transplantation
https://www.readbyqxmd.com/read/27888394/comparative-evaluation-of-hormonal-protocol-on-the-performance-of-crossbred-cattle
#20
J K Sahoo, S K Das, K Sethy, S K Mishra, R K Swain, P C Mishra, S P Sahoo
A total of 60 animals (38 cows, 22 heifers) were selected and were divided into three groups of 20 animals each (containing both anoestrus and repeat breeder) in which treatment was performed for 60 days. Group I: control (farmer practice), T1 group: group I + hormone (double synch), and T2 group: group I + hormone (Estra double synch). The growth performances were measured in terms of body weight and average daily gain (ADG). Blood collection was done at the start and end of the experiment for assessment of blood biochemical, hematological, and reproductive status of the animals...
November 25, 2016: Tropical Animal Health and Production
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