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https://www.readbyqxmd.com/read/29081386/molecular-approaches-to-diagnose-diamond-blackfan-anemia-the-eurodba-experience
#1
REVIEW
Lydie Da Costa, Marie-Françoise O'Donohue, Birgit van Dooijeweert, Katarzyna Albrecht, Sule Unal, Ugo Ramenghi, Thierry Leblanc, Irma Dianzani, Hannah Tamary, Marije Bartels, Pierre-Emmanuel Gleizes, Marcin Wlodarski, Alyson W MacInnes
Diamond-Blackfan anemia (DBA) is a rare congenital erythroblastopenia and inherited bone marrow failure syndrome that affects approximately seven individuals in every million live births. In addition to anemia, about 50% of all DBA patients suffer from various physical malformations of the face, hands, heart, or urogenital region. The disorder is almost exclusively driven by haploinsufficient mutations in one of several ribosomal protein (RP) genes, although for ∼30% of diagnosed patients no mutation is found in any of the known DBA-linked genes...
October 26, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29080105/a-modified-method-for-molecular-identification-of-baylisascaris-transfuga-in-european-brown-bears-ursus-arctos
#2
Jakub Gawor, Jan Gawor, Robert Gromadka, Tomasz Zwijacz-Kozica, Filip Zięba
Baylisascaris transfuga is a roundworm that has been reported worldwide in most bear species. In mammals and possibly humans, the larvae of B. transfuga can migrate in the tissues of aberrant hosts with larva migrans syndrome. The current study was performed to identify B. transfuga in faecal samples from free-ranging brown bears in the Tatra Mountains National Park in southern Poland. A commercial kit was used to extract genomic DNA directly from faecal samples. Additionally, a Chelex resin-based technique was successfully implemented to prepare a PCR template from eggs retrieved by flotation...
October 27, 2017: Parasitology Research
https://www.readbyqxmd.com/read/29059664/-guidelines-for-hiv-testing-in-poland
#3
Małgorzata Łucja Janczarek, Anna Grzeszczuk
Including HIV disease in the differential diagnosis is the responsibility of the treating physician. Unfortunately, despite 35 years passed from the description of the first cases of Acquired Immune Deficiency Syndrome, AIDS testing for HIV is offered sporadically in Poland. The aim of this paper is to present the current recommendations for HIV testing.
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29058074/acute-coronary-syndrome-in-immigrants-and-non-immigrants-results-of-an-austrian-prospective-pilot-study
#4
Duygu Gündüz, Anita Lesjak, Angela Wiedemann, Marion Avanzini, Walther-Benedikt Winkler, Hadice Ucar-Altenberger, Claudia Stöllberger, Franz Weidinger
BACKGROUND: There are indications that immigrant patients with acute coronary syndrome (ACS) differ in demographic characteristics and clinical presentation from non-immigrant patients. The aim of this prospective pilot study was to gather clinical and sociodemographic data from patients with ACS and to compare immigrants with non-immigrants. METHODS: Included were consecutive patients who underwent acute coronary angiography in one cardiological department for ACS from September 2011 to September 2013...
October 20, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/29040012/outcome-of-acute-lymphoblastic-leukemia-in-children-with-down-syndrome-polish-pediatric-leukemia-and-lymphoma-study-group-report
#5
Joanna Zawitkowska, Teresa Odój, Katarzyna Drabko, Agnieszka Zaucha-Prażmo, Julia Rudnicka, Michał Romiszewski, Michał Matysiak, Kinga Kwiecińska, Magdalena Ćwiklińska, Walentyna Balwierz, Joanna Owoc-Lempach, Katarzyna Derwich, Jacek Wachowiak, Maciej Niedźwiecki, Elżbieta Adamkiewicz-Drożyńska, Joanna Trelińska, Wojciech Młynarski, Andrzej Kołtan, Mariusz Wysocki, Renata Tomaszewska, Tomasz Szczepański, Marcin Płonowski, Maryna Krawczuk-Rybak, Tomasz Ociepa, Tomasz Urasiński, Agnieszka Mizia-Malarz, Grażyna Sobol-Milejska, Grażyna Karolczyk, Jerzy Kowalczyk
Children with Down syndrome (DS) have a 20-fold increased risk of developing leukemia compared with the general population. The aim of the study was to analyze the outcome of patients diagnosed with Down syndrome and acute lymphoblastic leukemia (ALL) in Poland between the years 2003 and 2010. A total of 1848 children were diagnosed with ALL (810 females and 1038 males). Of those, 41 (2.2%) had DS. The children were classified into three risk groups: a standard-risk group-14 patients, an intermediate-risk group-24, a high-risk group-3...
October 17, 2017: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/29033291/controversies-in-poland-syndrome-alternative-diagnoses-in-patients-with-congenital-pectoral-muscle-deficiency
#6
Martijn Baas, Elise B Burger, Dimitri Sneiders, Robert-Jan H Galjaard, Steven E R Hovius, Christianne A van Nieuwenhoven
PURPOSE: Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency...
October 13, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29030159/obstructive-m%C3%A3-llerian-anomalies-in-menstruating-adolescent-girls-a-report-of-22-cases
#7
Karina Kapczuk, Zbigniew Friebe, Kinga Iwaniec, Witold Kędzia
STUDY OBJECTIVE: To assess the clinical course of obstructive Müllerian anomalies found in girls after menarche DESIGN: A retrospective case series of adolescents who between 2009 and 2016 were treated for vaginal or uterine obstructive malformations diagnosed after menarche SETTING: Division of Gynecology, Poznań University of Medical Sciences, Poznań, Poland PARTICIPANTS: Twenty-two patients who, at the age of 11.4-18.2 (median 13.1) years, between 2 and 74 (median 7.5) months after menarche, underwent surgical repair of obstructive genital anomaly MAIN OUTCOME MEASURES: Müllerian defect type, presentation, radiologic findings, pre- and postoperative course RESULTS: Eighteen patients (81...
October 10, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28987040/-history-of-the-study-epidemiology-of-the-disease-and-characterization-of-borrelia-burgdorferi-infection
#8
EDITORIAL
Tadeusz Płusa
From the beginning of the twentieth century interest in tick-borne borreliosis continues to be an important diagnostic and therapeutic problem. In 1977, in Lyme and Old Lyme, Cunnecticut, in the United States, arthritis and skin lesions were described in 12 children, which were associated with tick bites. The name of the place was called a syndrome of Lyme disease. Dr Willy Burgdorfer observed microaerophilic Gram-negative bacteria (Spirochetes) with a diameter of 0.3-0.5 µm and a length of about 20-30 µm, which were isolated from the tick colon...
September 29, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28977255/statistical-analysis-plan-for-the-alveolar-recruitment-for-acute-respiratory-distress-syndrome-trial-art-a-randomized-controlled-trial
#9
Lucas Petri Damiani, Otavio Berwanger, Denise Paisani, Ligia Nasi Laranjeira, Erica Aranha Suzumura, Marcelo Britto Passos Amato, Carlos Roberto Ribeiro Carvalho, Alexandre Biasi Cavalcanti
BACKGROUND: The Alveolar Recruitment for Acute Respiratory Distress Syndrome Trial (ART) is an international multicenter randomized pragmatic controlled trial with allocation concealment involving 120 intensive care units in Brazil, Argentina, Colombia, Italy, Poland, Portugal, Malaysia, Spain, and Uruguay. The primary objective of ART is to determine whether maximum stepwise alveolar recruitment associated with PEEP titration, adjusted according to the static compliance of the respiratory system (ART strategy), is able to increase 28-day survival in patients with acute respiratory distress syndrome compared to conventional treatment (ARDSNet strategy)...
April 2017: Revista Brasileira de Terapia Intensiva
https://www.readbyqxmd.com/read/28954502/clinical-and-hormonal-features-of-women-with-polycystic-ovary-syndrome-living-in-rural-and-urban-areas
#10
Krzysztof Katulski, Adam Czyzyk, Natalia Podkowa, Agnieszka Podfigurna-Stopa, Natalia Ignaszak, Katarzyna Paczkowska, Sylwia Slawek, Dariusz Szpurek, Blazej Meczekalski
INTRODUCTION: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies among women at reproductive age, but its pathology remains unknown. From epidemiological studies it is known that endogenous, mainly genetic and exogenous, environmental factors are of importance. OBJECTIVE: The aim of the study was to compare the phenotype of women diagnosed with PCOS from urban and rural areas of Poland. According to the knowledge of the authors, this is first such study...
September 21, 2017: Annals of Agricultural and Environmental Medicine: AAEM
https://www.readbyqxmd.com/read/28954489/levels-of-renalase-and-advanced-oxidation-protein-products-with-regard-to-catecholamines-in-haemodialysed-patients
#11
Marcin Dziedzic, Ewelina Orłowska, Beata Petkowicz, Anna Bednarek-Skublewska, Janusz Solski, Małgorzata Goździewska
INTRODUCTION: The main mediators of the sympathetic nervous system in the effectors part are catecholamines (CA). An increased sympathetic nerve activity observed in chronic kidney disease (CKD), is due to a raised level of CA in plasma. Renalase is a protein secreted by the kidneys, composed of 342 amino acids, which is able to metabolize the circulating CA and possibly play an important role in the regulation of sympathetic tone and blood pressure. Also, oxidative stress, defined as a disruption of the equilibrium between the generation of oxidants, is a crucial factor in the development of the inflammatory syndrome associated with CKD...
September 21, 2017: Annals of Agricultural and Environmental Medicine: AAEM
https://www.readbyqxmd.com/read/28935331/modified-ravitch-procedure-for-left-poland-syndrome-combined-with-pectus-excavatum
#12
Gildardo Cortés-Julián, Hussein B Bushra-Nuritu, Renata Buenfil-Fuentes, José A Merino Rajme
Poland Syndrome is a rare disease with an incidence of 1 in 30,000. This disease is characterized by agenesis of the pectoralis major, hypoplasia of mammarian tissue and the nipple complex, and limb abnormalities. The severe form of this disease can be associated with rib and sternal malformations like pectus excavatum. A 19-year-old man with severe Poland syndrome with cardiac extrasystoles and restrictive ventilation as shown by a spirometry test is presented. A total sternal reconstruction with partial osteotomies and bilateral resection of cartilage was performed...
October 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28875970/-evaluation-of-selected-vascular-active-factors-in-patients-after-myocardial-infarction-subjected-to-cardiac-rehabilitation
#13
Joanna Kapusta, Anna Mejer-Barczewska, Edward Kowalczyk, Robert Irzmański, Jan Kowalski
Atherosclerosis is an inflammatory process that develops in the coronary arteries. Clinically active agents such as proinflammatory interleukins, TNF-α, tissue inhibitors of metalloproteinases (including TIMP-1), and vascular endothelial growth factor (VEGF), are important factors in the development of acute coronary syndromes. AIM: The aim of the study was to evaluate the effect of cardiac rehabilitation (stage II) on the concentration of selected vascular active factors (IL- 1, IL-6, TIMP-1, VEGF)...
August 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28845568/poland-s-syndrome-when-there-is-no-breast
#14
Eugene H Carragee, Elizabeth K Arleo
Poland's Syndrome is rare, therefore, clinicians may not be familiar with all that potentially defines this disorder. Much of the literature that exists regarding Poland's Syndrome focuses on the surgical correction of breast asymmetry for cosmesis. Inspired by a patient at our institution, this paper reviews this rare breast disorder and its associated findings within the context of the whole woman with special attention to breast cancer in this cohort.
November 2017: Breast Journal
https://www.readbyqxmd.com/read/28821302/participation-of-adults-with-disorders-differences-of-sex-development-dsd-in-the-clinical-study-dsd-life-design-methodology-recruitment-data-quality-and-study-population
#15
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes...
August 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28815356/dent-disease-in-poland-what-we-have-learned-so-far
#16
Marcin Zaniew, Małgorzata Mizerska-Wasiak, Iga Załuska-Leśniewska, Piotr Adamczyk, Katarzyna Kiliś-Pstrusińska, Adam Haliński, Jan Zawadzki, Beata S Lipska-Ziętkiewicz, Krzysztof Pawlaczyk, Przemysław Sikora, Michael Ludwig, Maria Szczepańska
PURPOSE: Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in Poland. METHODS: A retrospective analysis of a national cohort with genetically confirmed diagnosis. RESULTS: Of 24 males, all patients except one carried mutations in the CLCN5 gene; in one patient a mutation in the OCRL gene was disclosed. Molecular diagnosis was delayed 1 year on average (range 0-21 years)...
November 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28795360/benign-acute-childhood-myositis-during-influenza-b-outbreak
#17
Leszek Szenborn, K Toczek-Kubicka, J Zaryczański, M Marchewka-Kowalik, K Miśkiewicz, E Kuchar
Benign acute childhood myositis (BACM) is a syndrome classically occurring in children during the convalescent phase from a febrile upper respiratory tract infection, most commonly after influenza B. BACM can cause difficulty walking due to severe calf pain. Laboratory results show increased serum creatinine kinase and AST. Although alarming, BACM is self-limiting with symptoms disappearing within a week. Herein, we described a case series of BCAM in children in two cities in Poland during the influenza outbreaks in 2012/2013 and 2014/2015...
August 10, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28791147/two-types-of-bone-necrosis-in-the-middle-triassic-pistosaurus-longaevus-bones-the-results-of-integrated-studies
#18
Dawid Surmik, Bruce M Rothschild, Mateusz Dulski, Katarzyna Janiszewska
Avascular necrosis, diagnosed on the basis of either a specific pathological modification of the articular surfaces of bone or its radiologic appearance in vertebral centra, has been recognized in many Mesozoic marine reptiles as well as in present-day marine mammals. Its presence in the zoological and paleontologic record is usually associated with decompression syndrome, a disease that affects secondarily aquatic vertebrates that could dive. Bone necrosis can also be caused by infectious processes, but it differs in appearance from decompression syndrome-associated aseptic necrosis...
July 2017: Royal Society Open Science
https://www.readbyqxmd.com/read/28789576/association-between-tea-and-coffee-consumption-and-prevalence-of-metabolic-syndrome-in-poland-results-from-the-wobasz-ii-study-2013-2014
#19
Agnieszka Micek, Giuseppe Grosso, Maciej Polak, Krystyna Kozakiewicz, Andrzej Tykarski, Aleksandra Puch Walczak, Wojciech Drygas, Magdalena Kwaśniewska, Andrzej Pająk
The study aimed to assess a relationship between tea and coffee consumption and metabolic syndrome (MetS). Cross-sectional study of a random sample of total Polish population was done (The WOBASZ II Study), and the present analysis included 5146 participants at age 20 years and above. Tea and coffee consumption was assessed by 24-h recall method. MetS was defined according to IDF/NHLBI/AHA criteria. After adjustment for covariates, coffee consumption was related to blood pressure and HDL cholesterol, and moderate drinkers had 17% lower odds of MetS compared with non-drinkers (OR = 0...
August 9, 2017: International Journal of Food Sciences and Nutrition
https://www.readbyqxmd.com/read/28775114/poland-syndrome-a-case-report
#20
Apurva Bansal, Keerthi Reddy, Kristen Dinsmore, Alexei Gonzalez-Estrada
No abstract text is available yet for this article.
August 3, 2017: BMJ Case Reports
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