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https://www.readbyqxmd.com/read/29792684/label-free-optical-marker-for-rbc-phenotyping-of-inherited-anaemias
#1
Martina Mugnano, Pasquale Memmolo, Lisa Miccio, Francesco Merola, Vittorio Bianco, Alessia Bramanti, Antonella Gambale, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Pietro Ferraro
The gold standard methods for anaemia diagnosis are the complete blood count and the peripheral smear observation. However, they do not allow for a complete differential diagnosis, which requires biochemical assays, thus being label-dependent techniques. On the other hand, recent studies focus on label-free quantitative phase imaging (QPI) of blood samples to investigate blood diseases by using video-based morphological methods. However, when sick cells are very similar to healthy ones in terms of morphometric features identification of a blood disease becomes challenging even by morphometric as well as QPI...
May 24, 2018: Analytical Chemistry
https://www.readbyqxmd.com/read/29791522/improving-the-management-of-hereditary-angioedema
#2
EDITORIAL
Pedro Giavina-Bianchi, Jorge Kalil
No abstract text is available yet for this article.
May 17, 2018: Clinics
https://www.readbyqxmd.com/read/29791318/the-inhibitors-a-challenge-for-the-management-of-patients-with-hereditary-haemophilia-a
#3
Romeo-Gabriel Mihăilă
INTRODUCTION: Our research strategy was aimed at evaluating the possible implication of the type of factor VIII product administered as substitution treatment to haemophilia A patients in the occurrence of inhibitors and their consequences on the management. METHODS: Scientific articles from July 2015 to July 2017 were searched using the PubMed and PubMed Central databases. The used search terms included "haemophilia A", "inhibitors", "plasma-derived factor VIII" and "recombinant factor VIII"...
May 1, 2018: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
https://www.readbyqxmd.com/read/29791078/molecular-subtype-classification-of-urothelial-carcinoma-in-lynch-syndrome
#4
Christina Therkildsen, Pontus Eriksson, Mattias Höglund, Mats Jönsson, Gottfrid Sjödahl, Mef Nilbert, Fredrik Liedberg
Lynch syndrome confers an increased risk for urothelial carcinoma (UC). Molecular subtypes may be relevant to prognosis and therapeutic possibilities, but have to date not been defined in Lynch syndrome-associated urothelial cancer. We aimed to provide a molecular description of Lynch syndrome-associated UC. Thus, Lynch syndrome-associated UC of the upper urinary tract and the urinary bladder were identified in the Danish hereditary non-polyposis colorectal cancer (HNPCC) register and were transcriptionally and immunohistochemically profiled and further related to data from 307 sporadic urothelial carcinomas...
May 23, 2018: Molecular Oncology
https://www.readbyqxmd.com/read/29790589/genotype-phenotype-correlation-of-hereditary-erythrocytosis-mutations-a-single-center-experience
#5
Jennifer L Oliveira, Lea M Coon, Lori A Frederick, Molly Hein, Kenneth C Swanson, Michelle E Savedra, Tavanna R Porter, Mrinal M Patnaik, Ayalew Tefferi, Animesh Pardanani, Stefan K Grebe, David S Viswanatha, James D Hoyer
Hereditary erythrocytosis is associated with high oxygen affinity hemoglobin variants (HOAs), 2,3-bisphosphoglycerate deficiency and abnormalities in EPOR and the oxygen-sensing pathway proteins PHD, HIF2α, and VHL. Our laboratory has 40 years of experience with hemoglobin disorder testing and we have characterized HOAs using varied protein and molecular techniques including functional assessment by p50 analysis. In addition, we have more recently commenced adding the assessment of clinically relevant regions of the VHL, BPGM, EPOR, EGLN1 (PHD2), and EPAS1 (HIF2A) genes in a more comprehensive hereditary erythrocytosis panel of tests...
May 23, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29790359/-hereditary-breast-cancer-genetic-etiology-and-current-possibilities-of-prevention-and-surgical-treatment
#6
Alena Puchmajerová, Jannis Tornikidis, Lubor Mrňa, Markéta Havlovicová, Markéta Vlčková, Jana Chrudimská, Milan Macek, Jiří Hoch
Cancer is the second most common cause of death in our population just after cardiovascular diseases, since each third individual will become affected by it during their lifetime. Breast cancer is the most common malignancy in women. The lifetime cumulative risk of breast cancer in women under the age of 75 is around 8 % according to Czech statistics. In 70-75 % of all individuals sporadic breast carcinomas are found, with 5-10 % of all women suffer from the hereditary breast and ovarian cancer (HBOC) syndrome...
2018: Casopís Lékar̆ů C̆eských
https://www.readbyqxmd.com/read/29790286/vascular-reconstruction-technique-of-a-perforated-portal-vein-during-a-pediatric-total-pancreatectomy-and-islet-autotransplant
#7
Kent J Peterson, Oscar K Serrano, Siobhan Flanagan, Srinath Chinnakotla
Hereditary pancreatitis (HP) is a progressive disease that can manifest in childhood with debilitating, relapsing pain. A total pancreatectomy and islet autotransplant (TPIAT) is a surgical option to relieve chronic pain while preserving the available beta-cell mass. The clinical course of HP is fraught with pancreatitis-related sequelae that can both necessitate and complicate a TPIAT. We describe a child with HP who developed a pancreatic pseudocyst-portal vein (PV) fistula. Active hemorrhage of the perforated PV into the pseudocyst and PV thrombosis complicated the planned TPIAT procedure and, preoperatively, required urgent image-guided stenting...
May 22, 2018: American Journal of Transplantation
https://www.readbyqxmd.com/read/29790285/peripapillary-vessel-density-changes-in-leber-s-hereditary-optic-neuropathy-a-new-biomarker
#8
Nicole Balducci, Maria Lucia Cascavilla, Antonio Ciardella, Chiara La Morgia, Giacinto Triolo, Vincenzo Parisi, Francesco Bandello, Alfredo A Sadun, Valerio Carelli, Piero Barboni
IMPORTANCE: The contribution of the microvascular supply to the pathogenesis of Leber's Hereditary Optic Neuropathy (LHON) is poorly understood. BACKGROUND: We aimed at measuring the peripapillary capillary vessel density (VD) using optical coherence tomography angiography (OCT-A) at different stages of LHON. DESIGN: Prospective, cross-sectional, multicenter, observational study. PARTICIPANTS: Twenty-two LHON patients divided in 4 groups: unaffected mutation carriers (LHON-u); early subacute stage (LHON-e); late subacute stage (LHON-l); chronic stage (LHON-ch)...
May 22, 2018: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/29790249/the-mechanisms-of-epigenetic-inheritance-how-diverse-are-they
#9
Oleg N Tikhodeyev
Although epigenetic inheritance (EI) is a rapidly growing field of modern biology, it still has no clear place in fundamental genetic concepts which are traditionally based on the hereditary role of DNA. Moreover, not all mechanisms of EI attract the same attention, with most studies focused on DNA methylation, histone modification, RNA interference and amyloid prionization, but relatively few considering other mechanisms such as stable inhibition of plastid translation. Herein, we discuss all known and some hypothetical mechanisms that can underlie the stable inheritance of phenotypically distinct hereditary factors that lack differences in DNA sequence...
May 22, 2018: Biological Reviews of the Cambridge Philosophical Society
https://www.readbyqxmd.com/read/29789972/recurrence-of-pancreatic-neuroendocrine-tumors-and-survival-predicted-by-ki67
#10
C G Genç, M Falconi, S Partelli, F Muffatti, S van Eeden, C Doglioni, H J Klümpen, C H J van Eijck, E J M Nieveen van Dijkum
BACKGROUND: Despite evidence of different malignant potentials, postoperative follow-up assessment is similar for G1 and G2 pancreatic neuroendocrine tumors (panNETs) and adjuvant treatment currently is not indicated. This study investigated the role of Ki67 with regard to recurrence and survival after curative resection of panNET. METHODS: Patients with resected non-functioning panNET diagnosed between 1992 and 2016 from three institutions were retrospectively analyzed...
May 22, 2018: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29789529/inhibiting-p38-mapk-alpha-rescues-axonal-retrograde-transport-defects-in-a-mouse-model-of-als
#11
Katherine L Gibbs, Bernadett Kalmar, Elena R Rhymes, Alexander D Fellows, Mahmood Ahmed, Paul Whiting, Ceri H Davies, Linda Greensmith, Giampietro Schiavo
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease caused by the degeneration of upper and lower motor neurons. Defects in axonal transport have been observed pre-symptomatically in the SOD1G93A mouse model of ALS, and have been proposed to play a role in motor neuron degeneration as well as in other pathologies of the nervous system, such as Alzheimer's disease and hereditary neuropathies. In this study, we screen a library of small-molecule kinase inhibitors towards the identification of pharmacological enhancers of the axonal retrograde transport of signalling endosomes, which might be used to normalise the rate of this process in diseased neurons...
May 22, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29789451/zebrafish-models-of-rare-hereditary-pediatric-diseases
#12
REVIEW
Máté Varga, Dorottya Ralbovszki, Eszter Balogh, Renáta Hamar, Magdolna Keszthelyi, Kálmán Tory
Recent advances in sequencing technologies have made it significantly easier to find the genetic roots of rare hereditary pediatric diseases. These novel methods are not panaceas, however, and they often give ambiguous results, highlighting multiple possible causative mutations in affected patients. Furthermore, even when the mapping results are unambiguous, the affected gene might be of unknown function. In these cases, understanding how a particular genotype can result in a phenotype also needs carefully designed experimental work...
May 22, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29789176/how-to-support-cancer-genetics-counselees-in-informing-at-risk-relatives-lessons-from-a-randomized-controlled-trial
#13
Willem Eijzenga, Eveline de Geus, Cora M Aalfs, Fred H Menko, Rolf H Sijmons, Hanneke C J M de Haes, Ellen M A Smets
OBJECTIVE: In hereditary and familial cancer, counselees are requested to inform their at-risk relatives. We developed an intervention to support counselees in this task. METHODS: A randomized controlled trial was conducted aimed at improving cancer genetic counselees' i) knowledge, ii) motivation to disclose information, and ii) self-efficacy in this regard. Eligible participants were randomized to telephonic counseling (n = 148), or standard care (n = 157) and assessed at baseline, 1 week post-intervention, and 4 months after study enrolment...
May 8, 2018: Patient Education and Counseling
https://www.readbyqxmd.com/read/29788999/the-first-case-of-multiple-pulmonary-granulomas-with-amyloid-deposition-in-a-dental-technician-a-rare-manifestation-as-an-occupational-lung-disease
#14
Taizou Hirano, Tadahisa Numakura, Hiroshi Moriyama, Ryoko Saito, Yutaka Shishikura, Jun Shiihara, Hisatoshi Sugiura, Masakazu Ichinose
BACKGROUND: Occupational lung diseases, such as pneumoconiosis, are one of the health problems of dental workers that have been receiving increasing interest. Pulmonary amyloidosis is a heterogenous group of diseases, and can be classified into primary (idiopathic) and secondary (associated with various inflammatory diseases, hereditary, or neoplastic). To date, the development of pulmonary amyloidosis in dental workers has not been reported. CASE PRESENTATION: A 58-year-old Japanese female presented with chest discomfort and low-grade fever that has persisted for 2 months...
May 22, 2018: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29787853/false-aneurysm-of-the-popliteal-artery-complicated-by-a-deep-venous-thrombosis-revealing-an-exostosis-in-a-20-year-old-young-woman
#15
Tarik Bakkali, Mohamed Hormatallah, Ayoub Bounssir, Nabil Aghtoutane, Hamza Taous, Redouane Idrissi, Yasser Sefiani, Brahim Lekhel, Abbes Mesnaoui, Younes Bensaid
Exostoses or osteochondromas are benign osseous tumors that develop on the bone surface and can be sporadic or hereditary. Their evolution is generally benign but they may be complicated in some patients by conflicts with the surrounding nervous or vascular structures, in particular arteries. We report a case of false aneurysm of the popliteal artery secondary to an isolated exostosis of the left femur in a 20-year-old young woman. A delay in the diagnosis allowed the development of the false aneurysm which was at the origin of a major venous compression...
May 19, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29787760/in-vivo-gene-correction-with-targeted-sequence-substitution-through-microhomology-mediated-end-joining
#16
Jeong Hong Shin, Soobin Jung, Suresh Ramakrishna, Hyongbum Henry Kim, Junwon Lee
Genome editing technology using programmable nucleases has rapidly evolved in recent years. The primary mechanism to achieve precise integration of a transgene is mainly based on homology-directed repair (HDR). However, an HDR-based genome-editing approach is less efficient than non-homologous end-joining (NHEJ). Recently, a microhomology-mediated end-joining (MMEJ)-based transgene integration approach was developed, showing feasibility both in vitro and in vivo. We expanded this method to achieve targeted sequence substitution (TSS) of mutated sequences with normal sequences using double-guide RNAs (gRNAs), and a donor template flanking the microhomologies and target sequence of the gRNAs in vitro and in vivo...
May 19, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29787614/outcome-of-polycystic-kidney-disease-patients-on-peritoneal-dialysis-systematic-review-of-literature-and-meta-analysis
#17
Vincent Dupont, Lukshe Kanagaratnam, Mickaël Sigogne, Clémence Bechade, Thierry Lobbedez, Jose Portoles, Philippe Rieu, Moustapha Drame, Fatouma Touré
BACKGROUND: Polycystic kidney disease (PKD) is the most frequent hereditary cause of chronic kidney disease. Peritoneal dialysis (PD) is often avoided for patients with PKD because of the suspected risk of mechanical and infectious complications. Only a few studies have analyzed the outcome of PKD patients on PD with sometimes conflicting results. The purpose of this meta-analysis was to investigate outcomes of patients with PKD treated by PD. METHODS: A systematic review and meta-analysis were performed examining all studies which included "Polycystic kidney disease" and "Peritoneal dialysis" in their titles, excluding commentaries, letters to the authors and abstracts...
2018: PloS One
https://www.readbyqxmd.com/read/29786897/targeted-next-generation-sequencing-for-the-diagnosis-of-patients-with-rare-congenital-anemias
#18
Noa Shefer Averbuch, Orna Steinberg-Shemer, Orly Dgany, Tanya Krasnov, Sharon Noy-Lotan, Joanne Yacobovich, Amir A Kuperman, Antonis Kattamis, Ayelet Ben Barak, Batia Roth-Jelinek, Evgeni Chubar, Evelyn Shabad, Gustavo Dufort, Martin Ellis, Ofir Wolach, Idit Pazgal, Abed Abu Quider, Hagit Miskin, Hannah Tamary
BACKGROUND: Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias, some patients remain undiagnosed despite undergoing an exhaustive workup. Genetic testing is complicated by the large number of genes involved in rare anemias and the similarities in the clinical presentation of the different syndromes. OBJECTIVE: We aimed to enhance the diagnosis of patients with congenital anemias by using targeted next-generation sequencing...
May 22, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29786123/genetic-variations-in-lta-gene-and-pdcd1-gene-and-intrauterine-infection-of-hepatitis-b-virus-a-case-control-study-in-china
#19
Tingting Liu, Zhihua Wan, Songxu Peng, Yanni Wang, Hongyan Chen, Xiu Li, Yukai Du
Intrauterine infection with hepatitis B virus (HBV) has been suggested to accounting for most cases of chronic HBV infection, which cannot be blocked by combined immunoprophylaxis. The fact that the genetic background might impact the susceptibility to intrauterine infection of HBV has been identified by recent researches. A case-control study included sixty-nine HBsAg-positive mother-newborn pairs with intrauterine infection as cases compared to 138 mother-newborn pairs without intrauterine infection as controls...
May 21, 2018: Amino Acids
https://www.readbyqxmd.com/read/29785566/delineating-a-new-feature-of-constitutional-mismatch-repair-deficiency-cmmrd-syndrome-breast-cancer
#20
Lisa Bush, Melyssa Aronson, Uri Tabori, Brittany B Campbell, Raymond B Bedgood, Kory Jasperson
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive hereditary cancer condition, characterized by an exceptionally high risk of cancer, a propensity for childhood malignancies, and cutaneous features reminiscent of neurofibromatosis type 1 (NF1). We report on two sisters originally suspected of having CMMRD syndrome due to their history of colonic polyps and NF1 associated skin findings, both were subsequently found to have biallelic MSH6 mutations. After years of CMMRD syndrome follow-up, the proband was diagnosed with breast cancer at age 29, while her sister was diagnosed with a glioblastoma at age 27...
May 21, 2018: Familial Cancer
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