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Haematology genetics

Ankit K Dutta, J Lynn Fink, John P Grady, Gareth J Morgan, Charles G Mullighan, Luen B To, Duncan R Hewett, Andrew C W Zannettino
Multiple myeloma (MM) is a largely incurable haematological malignancy defined by the clonal proliferation of malignant plasma cells (PCs) within the bone marrow. Clonal heterogeneity has recently been established as a feature in MM, however, the subclonal evolution associated with disease progression has not been described. Here, we performed whole-exome sequencing of serial samples from 10 patients, providing new insights into the progression from monoclonal gammopathy of undetermined significance (MGUS) and smouldering MM (SMM), to symptomatic MM...
July 25, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Mariana Batista, José Carlos Cardoso, Pedro Oliveira, Margarida Gonçalo
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a potentially life-threatening adverse drug reaction characterised by generalised skin rash, fever, lymph node enlargement and haematological abnormalities, in addition to multiorgan involvement. However, diagnosis can be challenging, with rare cases presenting as an acute abdomen.Its aetiopathogenesis is not fully understood but inefficient drug detoxification, deregulated immune responses, reactivation of host viruses and genetic predisposition appear to be important...
July 24, 2018: BMJ Case Reports
Amit M Oza, Ursula A Matulonis, Susanne Malander, Stacie Hudgens, Jalid Sehouli, Josep M Del Campo, Dominique Berton-Rigaud, Susana Banerjee, Giovanni Scambia, Jonathan S Berek, Bente Lund, Anna V Tinker, Felix Hilpert, Isabel Palacio Vázquez, Véronique D'Hondt, Benedict Benigno, Diane Provencher, Joseph Buscema, Shefali Agarwal, Mansoor R Mirza
BACKGROUND: Quality of life (QOL) has become an important complementary endpoint in cancer clinical studies alongside more traditional assessments (eg, tumour response, progression-free survival, overall survival). Niraparib maintenance treatment has been shown to significantly improve progression-free survival in patients with recurrent ovarian cancer. We aimed to assess whether the benefits of extending progression-free survival are offset by treatment-associated toxic effects that affect QOL...
July 16, 2018: Lancet Oncology
Fadare Joseph Olusesan, Olatunya Oladele Simeon, Ogundare Ezra Olatunde, Oluwayemi Isaac Oludare, Agaja Oyinkansola Tolulope
Background: Sickle cell disease (SCD) is a genetic haematological disorder that affects millions of people around the world especially people of African heritage. The treatment of the symptoms of SCD includes the use of analgesics, antibiotics, and anti-malarial drugs. Studying the pattern of drug prescription is a veritable tool for establishing the current practice and how it conforms to existing guidelines. Objectives: The main objective of this study was to assess the pattern of drug prescription in children with sickle cell disease (SCD) attending the paediatric outpatients' clinic of a tertiary care centre in Ado-Ekiti, South-West Nigeria...
December 2017: Malawi Medical Journal: the Journal of Medical Association of Malawi
Kumail Khandwala, Kiran Hilal, Zehra Fadoo, Khurram Minhas
We present a case of a 14-year-old girl who was diagnosed with Burkitt lymphoma in 2014. She was managed with chemotherapy and remained in remission for 3 years. On her surveillance imaging in 2017, a left-sided renal neoplastic mass was incidentally discovered. She underwent nephrectomy and pathology of the resected specimen revealed small cell tumour of the kidney with features favouring renal Ewing sarcoma/primitive neuroectodermal tumour. Molecular genetic analysis by fluorescence in situ hybridisation was performed which showed translocation of 22q12, thereby confirming the diagnosis...
June 11, 2018: BMJ Case Reports
C Feben, T Wainstein, J Kromberg, F Essop, A Krause
Fanconi anaemia (FA) is an inherited genetic disorder characterised by somatic anomalies, bone marrow failure and an increased predisposition to solid tumours and haematological malignancies. South African (SA) black and Afrikaner individuals are at higher than average risk for this condition owing to genetic founder mutations in certain Fanconi-associated genes. This review explores the epidemiology, clinical presentation, diagnostic modalities and recommended care of affected patients, focusing on the founder population groups in SA...
April 25, 2018: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
Vithiya Ratnasamy, Suganthan Navaneethakrishnan, Nirmala Dushyanthi Sirisena, Nana-Maria Grüning, Oliver Brandau, Kumanan Thirunavukarasu, Casey L Dagnall, Lisa J McReynolds, Sharon A Savage, Vajira H W Dissanayake
BACKGROUND: Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared for by many medical sub specialties. The typical clinical features consist of lacy reticular skin pigmentation, nail dystrophy and oral leukoplakia. As the disease advances, patients may develop progressive bone marrow failure, pulmonary fibrosis, oesophageal stenosis, urethral stenosis, liver cirrhosis as well as haematological and solid malignancies...
May 25, 2018: BMC Medical Genetics
Leo Kager, Raúl Jimenez Heredia, Tatjana Hirschmugl, Jasmin Dmytrus, Ana Krolo, Heiko Müller, Christoph Bock, Petra Zeitlhofer, Michael Dworzak, Georg Mann, Wolfgang Holter, Oskar Haas, Kaan Boztug
Establishing a precise diagnosis is essential in inborn haematological cytopenias to enable appropriate treatment decisions and avoid secondary organ damage. However, both diversity and phenotypic overlap of distinct disease entities may make the identification of underlying genetic aetiologies by classical Sanger sequencing challenging. Instead of exome sequencing, we established a systematic next generation sequencing-based panel targeting 292 candidate genes and screened 38 consecutive patients for disease-associated mutations...
July 2018: British Journal of Haematology
Shani Stern, Sara Linker, Krishna C Vadodaria, Maria C Marchetto, Fred H Gage
Personalized medicine has become increasingly relevant to many medical fields, promising more efficient drug therapies and earlier intervention. The development of personalized medicine is coupled with the identification of biomarkers and classification algorithms that help predict the responses of different patients to different drugs. In the last 10 years, the Food and Drug Administration (FDA) has approved several genetically pre-screened drugs labelled as pharmacogenomics in the fields of oncology, pulmonary medicine, gastroenterology, haematology, neurology, rheumatology and even psychiatry...
May 2018: Open Biology
Lucile Broncy, Basma Ben Njima, Arnaud Méjean, Christophe Béroud, Khaled Ben Romdhane, Marius Ilie, Veronique Hofman, Jane Muret, Paul Hofman, Habiba Chaabouni Bouhamed, And Patrizia Paterlini-Bréchot
Context: Circulating Rare Cells (CRC) are non-haematological cells circulating in blood. They include Circulating Cancer Cells (CCC) and cells with uncertain malignant features (CRC-UMF) according to cytomorphology. Clear cell renal cell carcinomas frequently bear a mutated Von Hippel-Lindau (VHL) gene. Aim: To match blind genetic analysis of CRC and tumor samples with CRC cytopathological diagnosis. Results: 29/30 patients harboured CRC (20 harboured CCC, 29 CRC-UMF) and 25/29 patients carried VHL mutations in their tumour...
April 13, 2018: Oncotarget
Niels Asger Jakobsen, Paresh Vyas
The haematological malignancies are a heterogeneous group of neoplastic disorders, which lead to almost 10,000 deaths annually in the UK. Over the past 2 decades, there has been significant progress in our understanding of the pathological mechanisms underlying these cancers, accompanied by improvements in outcomes for some patients. In particular, advances in next-generation sequencing now make it possible to define the genetic lesions present in each patient, which has led to improved disease classification, risk stratification and identification of new therapeutic targets...
April 1, 2018: Clinical Medicine: Journal of the Royal College of Physicians of London
Piotr Łacina, Aleksandra Butrym, Grzegorz Mazur, Katarzyna Bogunia-Kubik
Multiple myeloma (MM) is a haematologic malignancy characterized by the presence of atypical plasma cells. Basigin (BSG, CD147) controls lactate export through the monocarboxylic acid transporter 1 (MCT1, SLC16A1) and supports MM survival and proliferation. Additionally, BSG is implicated in response to treatment with immunomodulatory drugs (thalidomide and its derivatives). We investigated the role of single nucleotide polymorphisms (SNPs) in the gene coding for BSG and SLC16A1 in MM. Following an in silico analysis, eight SNPs (four in BSG and four in SLC16A1 ) predicted to have a functional effect were selected and analyzed in 135 MM patients and 135 healthy individuals...
April 24, 2018: Genes
Edward J Fitzsimons, Jonathan O Cullis, Derrick W Thomas, Emmanouil Tsochatzis, William J H Griffiths
No abstract text is available yet for this article.
May 2018: British Journal of Haematology
I Polkowska, M Gołyńska, A Sobczyńska-Rak, A Dudek, T Szponder, B Żylińska, Ł Matuszewski
INTRODUCTION: feline plasmacytic gingivostomatitis is an important and fairly common chronic disease. Its complex aetiology - which involves infectious agents, immunological disorders, and even genetic factors adds to the considerable difficulty of its treatment. MATERIALS AND METHODS: the study was performed on 33 cats, 26 animals diagnosed with plasmacytic gingivostomatitis (study group) and 7 clinically healthy cats (control group). The study extended over four examination periods during which clinical and X-ray examinations, morphological and biochemical blood tests, as well as haptoglobin essays were performed...
March 2018: Polish Journal of Veterinary Sciences
Paolo Capogrosso, Eugenio Ventimiglia, Luca Boeri, Walter Cazzaniga, Francesco Chierigo, Francesco Montorsi, Andrea Salonia
INTRODUCTION: Male infertility (MI) has been widely associated with different comorbid conditions. The aim of this review is to summarize the available evidences investigating the link between MI cancer, chronic non-malignant conditions and overall health. EVIDENCE ACQUISITION: A literature search has been conducted using the MEDLINE/PubMed and Scopus databases for English-language original and review articles and selecting publications from January 2007 to June 2017, although highly regarded older publications were also considered...
June 2018: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
Lucy C Fox, Solomon J Cohney, Joshua Y Kausman, Jake Shortt, Peter D Hughes, Erica M Wood, Nicole M Isbel, Theo de Malmanche, Anne Durkan, Pravin Hissaria, Piers Blombery, Thomas D Barbour
Thrombotic microangiopathy (TMA) arises in a variety of clinical circumstances with the potential to cause significant dysfunction of the kidneys, brain, gastrointestinal tract and heart. TMA should be considered in all patients with thrombocytopenia and anaemia, with an immediate request to the haematology laboratory to look for red cell fragments on a blood film. Although TMA of any aetiology generally demands prompt treatment, this is especially so in thrombotic thrombocytopenic purpura (TTP) and atypical haemolytic uraemic syndrome (aHUS), where organ failure may be precipitous, irreversible and fatal...
June 2018: Internal Medicine Journal
Kamila Caraballo Cortes, Magdalena Rosińska, Maciej Janiak, Małgorzata Stępień, Osvaldo Zagordi, Karol Perlejewski, Sylwia Osuch, Agnieszka Pawełczyk, Iwona Bukowska-Ośko, Rafał Płoski, Piotr Grabarczyk, Tomasz Laskus, Marek Radkowski
Molecular characterization of early hepatitis C virus (HCV) infection remains rare. Ten out of 78 patients of a hematology/oncology center were found to be HCV RNA positive two to four months after hospitalization. Only two of the ten patients were anti-HCV positive. HCV hypervariable region 1 (HVR1) was amplified in seven patients (including one anti-HCV positive) and analyzed by next generation sequencing (NGS). Genetic variants were reconstructed by Shorah and an empirically established 0.5% variant frequency cut-off was implemented...
2018: PloS One
Barbara Padalino, Sharanne L Raidal, Peter Knight, Pietro Celi, Leo Jeffcott, Gary Muscatello
This study aimed to document the effects of an eight hour journey on behavioural, clinical, haematological, environmental and respiratory parameters, and to identify possible associations between factors. Twelve horses underwent clinical examination, respiratory endoscopy with tracheal wash (TW) aspiration, and collection of venous and arterial blood before (BJ) and after the journey (AJ). TW were submitted for conventional quantitative bacteriological evaluation and genetic microbiome analyses. Behaviour was assessed in stables prior to transportation and throughout the journey...
2018: PloS One
Tharangrut Hanprasertpong, Kasem Raungrongmorakot, Alan Geater, Pawin Puapornpong, Wipada Laosooksathit, Aurasa Hemachandra, Maysita Suksamarnwong
Thalassaemia is a common haematologic health condition in Southeast Asian countries (SEA) including Thailand. Reducing the birth of new thalassaemia cases is an effective method to control disease. The background level of knowledge and attitude of pregnant women on the disease influences their decision to perform antenatal screening. Unfortunately, the information about pregnant women's knowledge and attitude on antenatal thalassaemia screening in a developing country such as Thailand is lacking. We therefore conducted this cross-sectional study to examine patients' knowledge and to evaluate the factors which influence the patient's knowledge and attitude on antenatal thalassaemia screening...
March 22, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Ruchita Dixit, Sowmya Nettem, Simerjit S Madan, Htoo Htoo Kyaw Soe, Adinegara Bl Abas, Leah D Vance, Patrick J Stover
BACKGROUND: Sickle cell disease (SCD) is a group of disorders that affects haemoglobin, which causes distorted sickle- or crescent-shaped red blood cells. It is characterized by anaemia, increased susceptibility to infections and episodes of pain. The disease is acquired by inheriting abnormal genes from both parents, the combination giving rise to different forms of the disease. Due to increased erythropoiesis in people with SCD, it is hypothesized that they are at an increased risk for folate deficiency...
March 16, 2018: Cochrane Database of Systematic Reviews
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