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https://www.readbyqxmd.com/read/29294730/acceptance-of-intimate-partner-violence-in-rural-malawi-an-empirical-analysis-on-the-impacts-of-lineage-and-aids-conversation-networks
#1
Allison Shwachman Kaminaga
Acceptance of intimate partner violence (IPV) is both a barrier to its reduction and a strong predictor of prevalence. This study examines whether lineage and AIDS conversation networks impact acceptance of IPV among men and women in rural Malawi. The sample consists of 4,422 male and female respondents from the 2001, 2004, and 2006 waves of the Malawi Longitudinal Study of Families and Health (MLSFH). The longitudinal nature of the data enables us to use not only random effects models in the empirical analysis, but also fixed effects models, which help alleviate omitted variable bias...
April 1, 2017: Journal of Interpersonal Violence
https://www.readbyqxmd.com/read/29285795/ataluren-driven-restoration-of-shwachman-bodian-diamond-syndrome-protein-function-in-shwachman-diamond-syndrome-bone-marrow-cells
#2
Valentino Bezzerri, Donatella Bardelli, Jacopo Morini, Antonio Vella, Simone Cesaro, Claudio Sorio, Andrea Biondi, Cesare Danesino, Piero Farruggia, Baroukh Maurice Assael, Giovanna D'Amico, Marco Cipolli
Shwachman-Diamond syndrome (SDS) is a rare inherited recessive disease mainly caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene, which encodes for the homonymous protein SBDS, whose function still remains to be fully established. SDS affects several organs causing bone marrow failure, exocrine pancreatic insufficiency, skeletal malformations, and cognitive disorders. About 15% of SDS patients develop myelodysplastic syndromes (MDS) and are at higher risk of developing acute myeloid leukemia (AML)...
December 29, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29222241/inherited-bone-marrow-failure-syndromes-considerations-pre-and-posttransplant
#3
REVIEW
Blanche P Alter
Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure, myelodysplastic syndrome, or acute myeloid leukemia. They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222240/old-and-new-tools-in-the-clinical-diagnosis-of-inherited-bone-marrow-failure-syndromes
#4
REVIEW
Allison H West, Jane E Churpek
Patients with inherited bone marrow failure syndromes (IBMFSs) classically present with specific patterns of cytopenias along with congenital anomalies and/or other physical features that are often recognizable early in life. However, increasing application of genomic sequencing and clinical awareness of subtle disease presentations have led to the recognition of IBMFS in pediatric and adult populations more frequently than previously realized, such as those with early onset myelodysplastic syndrome (MDS). Given the well-defined differences in clinical management needs and outcomes for aplastic anemia, acute myeloid leukemia, and MDS in patients with an IBMFS vs those occurring sporadically, as well as nonhematologic comorbidities in patients with IBMFSs, it is critical for hematologists to understand how to approach screening for the currently known IBMFSs...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29167174/inherited-bone-marrow-failure-syndromes-considerations-pre-and-posttransplant
#5
REVIEW
Blanche P Alter
Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure, myelodysplastic syndrome, or acute myeloid leukemia. They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome...
November 23, 2017: Blood
https://www.readbyqxmd.com/read/29092827/somatic-mutations-and-clonal-hematopoiesis-in-congenital-neutropenia
#6
Jun Xia, Christopher A Miller, Jack Baty, Amrita Ramesh, Matthew R M Jotte, Robert S Fulton, Tiphanie P Vogel, Megan A Cooper, Kelly J Walkovich, Vahagn Makaryan, Audrey A Bolyard, Mary C Dinauer, David B Wilson, Adrianna Vlachos, Kasiani C Myers, Robert J Rothbaum, Alison A Bertuch, David C Dale, Akiko Shimamura, Laurence A Boxer, Daniel C Link
Severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS) are congenital neutropenia syndromes with a high rate of leukemic transformation. Hematopoietic stressors may contribute to leukemic transformation by increasing the mutation rate in hematopoietic stem/progenitor cells (HSPCs) and/or by promoting clonal hematopoiesis. We sequenced the exome of individual hematopoietic colonies derived from 13 patients with congenital neutropenia to measure total mutation burden and performed error-corrected sequencing on a panel of 46 genes on 80 patients with congenital neutropenia to assess for clonal hematopoiesis...
November 1, 2017: Blood
https://www.readbyqxmd.com/read/29051281/cancer-in-the-national-cancer-institute-inherited-bone-marrow-failure-syndrome-cohort-after-15-years-of-follow-up
#7
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg
The National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort enrolls patients with the four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome, and follows them with a common comprehensive protocol. The current analysis includes more than double the numbers of patients and person-years since our first report in 2010. Patients with Fanconi anemia and dyskeratosis congenita developed head and neck and anogenital squamous cell carcinomas at rates that are hundreds-fold greater than the general population...
October 19, 2017: Haematologica
https://www.readbyqxmd.com/read/28972538/mutations-in-signal-recognition-particle-srp54-cause-syndromic-neutropenia-with-shwachman-diamond-like-features
#8
Raphael Carapito, Martina Konantz, Catherine Paillard, Zhichao Miao, Angélique Pichot, Magalie S Leduc, Yaping Yang, Katie L Bergstrom, Donald H Mahoney, Deborah L Shardy, Ghada Alsaleh, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Véronique Rolli, Joëlle S Müller, Elisa Alghisi, Loïc Sauteur, Cécile Macquin, Aurore Morlon, Consuelo Sebastia Sancho, Patrizia Amati-Bonneau, Vincent Procaccio, Anne-Laure Mosca-Boidron, Nathalie Marle, Naël Osmani, Olivier Lefebvre, Jacky G Goetz, Sule Unal, Nurten A Akarsu, Mirjana Radosavljevic, Marie-Pierre Chenard, Fanny Rialland, Audrey Grain, Marie-Christine Béné, Marion Eveillard, Marie Vincent, Julien Guy, Laurence Faivre, Christel Thauvin-Robinet, Julien Thevenon, Kasiani Myers, Mark D Fleming, Akiko Shimamura, Elodie Bottollier-Lemallaz, Eric Westhof, Claudia Lengerke, Bertrand Isidor, Seiamak Bahram
Shwachman-Diamond syndrome (SDS) (OMIM #260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent of patients have compound heterozygous loss-of-function mutations in the Shwachman-Bodian-Diamond syndrome (sbds) gene. Using trio whole-exome sequencing (WES) in an sbds-negative SDS family and candidate gene sequencing in additional SBDS-negative SDS cases or molecularly undiagnosed IBMFS cases, we identified 3 independent patients, each of whom carried a de novo missense variant in srp54 (encoding signal recognition particle 54 kDa)...
October 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28965239/burkholderia-cepacia-complex-in-cystic-fibrosis-in-a-brazilian-reference-center
#9
Priscila Dentini, Fernando Augusto Lima Marson, Luciana Cardoso Bonadia, Carmen Sílvia Bertuzzo, Antônio Fernando Ribeiro, Carlos Emílio Levy, José Dirceu Ribeiro
The Burkholderia cepacia complex (BCC) can cause a severe decline in lung function in cystic fibrosis (CF). Our objective was to determine the BCC prevalence and to evaluate its clinical impact on CF. Clinical and laboratory variables were determined for CF patients with BCC (Group-A = 50 patients) and without BCC (Group-B = 134 patients). The microorganisms were identified by biochemical tests, the Vitek2(®)Compact test, recA-PCR and recA-nested-PCR with species-specific primers and DNA sequencing. The patients were evaluated by the Shwachman-Kulczycki score (SKCS), Bhalla score (BS), spirometry and body mass index (BMI)...
December 2017: Medical Microbiology and Immunology
https://www.readbyqxmd.com/read/28945313/severe-infantile-isolated-exocrine-pancreatic-insufficiency-caused-by-the-complete-functional-loss-of-the-spink1-gene
#10
Théa Venet, Emmanuelle Masson, Cécile Talbotec, Kareen Billiemaz, Renaud Touraine, Claire Gay, Sylvie Destombe, David N Cooper, Hugues Patural, Jian-Min Chen, Claude Férec
Exocrine pancreatic insufficiency (EPI) is rare in children, with most if not all cases occurring as part of syndromic conditions such as cystic fibrosis and Shwachman-Diamond syndrome. Here we report two cases, both presenting with severe EPI around 5 months of age. Characterized by diffuse pancreatic lipomatosis, they otherwise exhibited no remarkable deficiencies in other organs. Novel non-identical homozygous variants (a deletion removing the entire SPINK1 gene and an insertion of a full-length inverted Alu element into the 3'-untranslated region of the SPINK1 gene) resulting in the complete functional loss of the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor) were identified in each patient...
September 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28942353/molecular-basis-of-the-human-ribosomopathy-shwachman-diamond-syndrome
#11
REVIEW
Alan J Warren
Mutations that target the ubiquitous process of ribosome assembly paradoxically cause diverse tissue-specific disorders (ribosomopathies) that are often associated with an increased risk of cancer. Ribosomes are the essential macromolecular machines that read the genetic code in all cells in all kingdoms of life. Following pre-assembly in the nucleus, precursors of the large 60S and small 40S ribosomal subunits are exported to the cytoplasm where the final steps in maturation are completed. Here, I review the recent insights into the conserved mechanisms of ribosome assembly that have come from functional characterisation of the genes mutated in human ribosomopathies...
September 6, 2017: Advances in Biological Regulation
https://www.readbyqxmd.com/read/28840370/clinical-and-microbiological-profile-of-chronic-burkholderia-cepacia-complex-infections-in-a-cystic-fibrosis-reference-hospital-in-brazil
#12
C P da Costa Capizzani, N C Caçador, L A G M M Torres, L Tonani, P Vandamme, A L da Costa Darini
Burkholderia sp. infections are extremely complex in cystic fibrosis (CF) patients, especially considering the lack of knowledge regarding its behavior, its relationship with prognosis, as well as its transmissibility and multidrug resistance features. This study evaluated the frequency of chronic infection by Burkholderia, using microbiological and clinical data. Ninety-eight patients with CF attended from July 2011 to April 2014 in a Brazilian reference hospital were included. Antimicrobial activity, molecular epidemiology, Shwachman score, body mass index, exacerbations, and lung function were analyzed...
November 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28801981/pregnancy-outcomes-in-mothers-of-offspring-with-inherited-bone-marrow-failure-syndromes
#13
Neelam Giri, Helen D Reed, Pamela Stratton, Sharon A Savage, Blanche P Alter
BACKGROUND: Children with inherited bone marrow failure syndromes (IBMFSs) may be symptomatic in utero, resulting in maternal and fetal problems during the pregnancy. Subsequent pregnancies by their mothers should be considered "high risk". METHODS: We retrospectively analyzed outcomes of 575 pregnancies in 165 unaffected mothers of offspring with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) for events noted during pregnancy, labor, and delivery...
August 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28767774/factors-associated-with-malnutrition-in-adolescent-and-adult-patients-with-cystic-fibrosis
#14
Gabriela Cristofoli Barni, Gabriele Carra Forte, Luis Felipe Forgiarini, Claudine Lacerda de Oliveira Abrahão, Paulo de Tarso Roth Dalcin
Objective: To determine the prevalence of malnutrition in patients attending an adult cystic fibrosis (CF) program and to investigate the associations of malnutrition with the clinical characteristics of those patients. Methods: This was a cross-sectional study involving patients with clinically stable CF patients (16 years of age or older). The patients underwent clinical assessment, nutritional assessments, pulmonary function tests, and pancreatic function assessment...
July 31, 2017: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/28756021/association-of-clinical-severity-of-cystic-fibrosis-with-variants-in-the-slc-gene-family-slc6a14-slc26a9-slc11a1-and-slc9a3
#15
Stéphanie Villa-Nova Pereira, José Dirceu Ribeiro, Carmen Sílvia Bertuzzo, Fernando Augusto Lima Marson
INTRODUCTION: Cystic fibrosis (CF) manifests with clinical and histopathological variability depending on environmental and genetic factors. Moreover, the genes encoding ion channels[rs3788766(SLC6A14), rs7512462(SLC26A9), rs17235416(SLC11A1) and rs17563161(SLC9A3)] have been insufficiently studied as modifier genes. Then, our objective was associate the variants in the genes of SLC family with 43 CF severity markers. METHODS: The variants were identified by real-time-PCR in 188 CF patients considering the CFTR genotype...
September 20, 2017: Gene
https://www.readbyqxmd.com/read/28685844/genetic-characterization-of-gsd-i-in-serbian-population-revealed-unexpectedly-high-incidence-of-gsd-ib-and-three-novel-slc37a4-variants
#16
Anita Skakic, Maja Djordjevic, Adrijan Sarajlija, Kristel Klaassen, Natasa Tosic, Bozica Kecman, Milena Ugrin, Vesna Spasovski, Sonja Pavlovic, Maja Stojiljkovic
Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next-generation sequencing (NGS). We identified 28 GSD Ib and five Ia patients. In five patients, GSD III, VI, IX, cholesteryl-ester storage disease and Shwachman-Diamond syndrome diagnoses were set using NGS. Incidences for GSD Ia and GSD Ib were estimated at 1:172746 and 1:60461 live-births respectively. Two variants were identified in G6PC gene: c...
July 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28684451/dysplastic-neutrophils-in-the-bone-marrow-of-a-shwachman-diamond-syndrome-patient
#17
Jean-François Lesesve, Julien Broséus
No abstract text is available yet for this article.
July 6, 2017: Blood
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#18
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28602958/allogeneic-hematopoietic-cell-transplantation-using-treosulfan-based-conditioning-for-treatment-of-marrow-failure-disorders
#19
Lauri M Burroughs, Akiko Shimamura, Julie-An Talano, Jennifer A Domm, Kelsey K Baker, Colleen Delaney, Haydar Frangoul, David A Margolis, K Scott Baker, Eneida R Nemecek, Amy E Geddis, Brenda M Sandmaier, H Joachim Deeg, Rainer Storb, Ann E Woolfrey
Hematopoietic cell transplantation (HCT) is effective in the treatment of inherited marrow failure disorders and other nonmalignant diseases. Conventional myeloablative conditioning regimens have been associated with high transplant-related mortality, particularly in patients with comorbid conditions. Here we report on 14 patients with marrow failure disorders (Shwachman-Diamond syndrome, n = 3; Diamond Blackfan anemia, n = 4; GATA2 deficiency, n = 2; paroxysmal nocturnal hemoglobinuria, n = 4; and an undefined marrow failure disorder, n = 1) who underwent HCT on a prospective, phase II, multicenter clinical trial...
October 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28588803/syndrome-of-progressive-bone-marrow-failure-and-pancreatic-insufficiency-remains-cryptic-despite-whole-exome-sequencing-variant-of-shwachman-diamond-syndrome-or-new-condition
#20
Matthew C Fadus, Eric T Rush, Christina K Lettieri
This case underscores the difficulty in diagnosis of bone marrow failure disorders, as the presentation of disease can be inconsistent, complicated by complex and ever-expanding genetic etiologies. A patient who presents with bone marrow failure and pancreatic insufficiency raises the question of Shwachman-Diamond syndrome (SDS) or a new condition which resembles SDS.
June 2017: Clinical Case Reports
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