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Tytuł:
Bone Health Impairment in Patients with Hemoglobinopathies: From Biological Bases to New Possible Therapeutic Strategies.
Autorzy:
Di Paola A; Department of Woman, Child and General and Specialist Surgery, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Marrapodi MM; Department of Woman, Child and General and Specialist Surgery, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Di Martino M; Department of Woman, Child and General and Specialist Surgery, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Giliberti G; Department of Experimental Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Di Feo G; Department of Woman, Child and General and Specialist Surgery, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Rana D; Department of Experimental Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Ahmed S; Department of Experimental Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Argenziano M; Department of Woman, Child and General and Specialist Surgery, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Rossi F; Department of Woman, Child and General and Specialist Surgery, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Roberti D; Department of Woman, Child and General and Specialist Surgery, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 01; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 01.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Hemoglobinopathies*/genetics
Anemia, Sickle Cell*/genetics
Thalassemia*
beta-Thalassemia*/genetics
Humans ; Bone Density ; Hemoglobin, Sickle
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management.
Autorzy:
Traeger-Synodinos J; Laboratory of Medical Genetics, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, 11527 Athens, Greece.
Vrettou C; Laboratory of Medical Genetics, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, 11527 Athens, Greece.
Sofocleous C; Laboratory of Medical Genetics, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, 11527 Athens, Greece.
Zurlo M; Department of Life Sciences and Biotechnology, 40124 Ferrara, Italy.
Finotti A; Department of Life Sciences and Biotechnology, 40124 Ferrara, Italy.; Center 'Chiara Gemmo and Elio Zago' for the Research on Thalassemia, Department of Life Sciences and Biotechnology, University of Ferrara, 44121 Ferrara, Italy.
Gambari R; Center 'Chiara Gemmo and Elio Zago' for the Research on Thalassemia, Department of Life Sciences and Biotechnology, University of Ferrara, 44121 Ferrara, Italy.
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Corporate Authors:
International Hemoglobinopathy Research Network (INHERENT)
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 17; Vol. 25 (6). Date of Electronic Publication: 2024 Mar 17.
Typ publikacji:
Journal Article; Review
MeSH Terms:
beta-Thalassemia*/genetics
Hemoglobinopathies*/genetics
Humans ; alpha-Globins/genetics ; alpha-Globins/metabolism ; Phenotype ; Gene Expression ; Blood Proteins/genetics ; Molecular Chaperones/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Endocrinopathies in Hemoglobinopathies: What Is the Role of Iron?
Autorzy:
Evangelidis P; Second Propedeutic Department of Internal Medicine, Hippocration Hospital, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece.
Venou TM; Adult Thalassemia Unit, 2nd Department of Internal Medicine, Aristotle University of Thessaloniki, Hippocration General Hospital, 54642 Thessaloniki, Greece.
Fani B; Department of Internal Medicine, General Hospital of Katerini, 60100 Katerini, Greece.
Vlachaki E; Adult Thalassemia Unit, 2nd Department of Internal Medicine, Aristotle University of Thessaloniki, Hippocration General Hospital, 54642 Thessaloniki, Greece.
Gavriilaki E; Second Propedeutic Department of Internal Medicine, Hippocration Hospital, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece.
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Corporate Authors:
on behalf of the International Hemoglobinopathy Research Network (INHERENT)
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Nov 13; Vol. 24 (22). Date of Electronic Publication: 2023 Nov 13.
Typ publikacji:
Journal Article; Review
MeSH Terms:
beta-Thalassemia*/pathology
Hemoglobinopathies*/complications
Hemoglobinopathies*/epidemiology
Hemoglobinopathies*/genetics
Anemia, Sickle Cell*
Diabetes Mellitus*
Humans ; Iron ; Quality of Life
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prevalence of Hemoglobinopathies in Premarital Screening in the Province of Nigde, Turkey.
Autorzy:
Seydel GS; Department of Health Care Services, Nigde Zubeyde Hanım Vocational School of Health Service, Nigde Omer Halisdemir University, Nigde, Turkey.
Ayan D; Department of Medical Biochemistry, Faculty of Medicine, Nigde Omer Halisdemir University, Nigde, Turkey.; Department of Medical Biochemistry, Nigde Training and Research Hospital, Nigde, Turkey.
Balci T; Department of Medical Biochemistry, Nigde Training and Research Hospital, Nigde, Turkey.
Bayraktar M; Department of Public Health, Faculty of Medicine, Nigde Omer Halisdemir University, Nigde, Turkey.
Gunturk I; Department of Midwifery, Zubeyde Hanım Faculty of Health Sciences, Nigde Omer Halisdemir University, Nigde, Turkey.
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Źródło:
Hemoglobin [Hemoglobin] 2023 Nov; Vol. 47 (2), pp. 36-41. Date of Electronic Publication: 2023 May 15.
Typ publikacji:
Journal Article
MeSH Terms:
beta-Thalassemia*/diagnosis
beta-Thalassemia*/epidemiology
beta-Thalassemia*/genetics
Hemoglobinopathies*/diagnosis
Hemoglobinopathies*/epidemiology
Male ; Female ; Humans ; Turkey/epidemiology ; Prevalence ; Hemoglobins
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Red blood cell indices in different hemoglobinopathies: A cross-sectional study in Eastern India.
Autorzy:
Nandi A; Department of Pathology, Medical College and Hospital, Kolkata, West Bengal, India.
Talukdar M; Department of Pathology, Medical College and Hospital, Kolkata, West Bengal, India.
Bhattacharya S; Department of Community Medicine, NRS Medical College, Kolkata, West Bengal, India.
Sen S; Department of Laboratory Medicine, CK Birla Hospital, Kolkata, West Bengal, India.
Biswas S; Department of Biochemistry, One Diagnostic Laboratory, Kolkata, West Bengal, India.
Roy K; Department of Pathology, One Diagnostic Laboratory, Kolkata, West Bengal, India.
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Źródło:
Indian journal of pathology & microbiology [Indian J Pathol Microbiol] 2024 Jan-Mar; Vol. 67 (1), pp. 115-120.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
beta-Thalassemia*
Hemoglobinopathies*/diagnosis
Humans ; Infant ; Erythrocyte Indices ; Cross-Sectional Studies ; Hemoglobins ; India ; Erythrocytes
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Evaluation of Mono- and Bi-Functional GLOBE-Based Vectors for Therapy of β-Thalassemia by HBB Gene Addition and Mutation-Specific RNA Interference.
Autorzy:
Koniali L; Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, 2371 Nicosia, Cyprus.
Flouri C; Gene Expression and Therapy Group, Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, London SE1 9RT, UK.
Kostopoulou MI; Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, 2371 Nicosia, Cyprus.
Papaioannou NY; Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, 2371 Nicosia, Cyprus.
Papasavva PL; Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, 2371 Nicosia, Cyprus.
Naiisseh B; Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, 2371 Nicosia, Cyprus.
Stephanou C; Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, 2371 Nicosia, Cyprus.
Demetriadou A; Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, 2371 Nicosia, Cyprus.
Sitarou M; Thalassemia Clinic Larnaca, Larnaca General Hospital, 6301 Larnaca, Cyprus.
Christou S; Thalassemia Clinic Nicosia, Archbishop Makarios III Hospital, 1474 Nicosia, Cyprus.
Antoniou MN; Gene Expression and Therapy Group, Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, London SE1 9RT, UK.
Kleanthous M; Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, 2371 Nicosia, Cyprus.
Patsali P; Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, 2371 Nicosia, Cyprus.
Lederer CW; Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, 2371 Nicosia, Cyprus.
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Źródło:
Cells [Cells] 2023 Dec 15; Vol. 12 (24). Date of Electronic Publication: 2023 Dec 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
beta-Thalassemia*/genetics
beta-Thalassemia*/therapy
Hemoglobinopathies*/genetics
Hemoglobinopathies*/therapy
Humans ; RNA Interference ; Genetic Therapy/methods ; Genetic Vectors/genetics ; Mutation ; beta-Globins/genetics ; RNA, Small Interfering/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Comparison of Capillary Zone Electrophoresis with High-pressure Liquid Chromatography in the Evaluation of Hemoglobinopathies
Autorzy:
Çakır Madenci Ö; University of Health Sciences Türkiye, Kartal Dr. Lütfi Kırdar City Hospital, Biochemistry Laboratory, İstanbul, Türkiye
Hürmeydan Ö; University of Health Sciences Türkiye, Kartal Dr. Lütfi Kırdar City Hospital, Biochemistry Laboratory, İstanbul, Türkiye
Orçun A; University of Health Sciences Türkiye, Kartal Dr. Lütfi Kırdar City Hospital, Biochemistry Laboratory, İstanbul, Türkiye
Erdoğmuş F; University of Health Sciences Türkiye, Kartal Dr. Lütfi Kırdar City Hospital, Biochemistry Laboratory, İstanbul, Türkiye
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Źródło:
Turkish journal of haematology : official journal of Turkish Society of Haematology [Turk J Haematol] 2023 Dec 05; Vol. 40 (4), pp. 258-265. Date of Electronic Publication: 2023 Sep 19.
Typ publikacji:
Journal Article
MeSH Terms:
beta-Thalassemia*/diagnosis
Hemoglobinopathies*/diagnosis
Humans ; Chromatography, High Pressure Liquid ; Hemoglobin A2 ; Electrophoresis, Capillary/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Safety and efficacy of ketorolac continuous infusion for multimodal analgesia of vaso-occlusive crisis in patients with sickle cell disease.
Autorzy:
Pinto VM; EO Ospedali Galliera, Centro della Microcitemia, delle Anemie Congenite e dei Disordini del Metabolismo del Ferro, Genoa, Italy.
Gianesin B; EO Ospedali Galliera, Centro della Microcitemia, delle Anemie Congenite e dei Disordini del Metabolismo del Ferro, Genoa, Italy.; For Anemia Foundation, Genoa, Italy.
Sardo S; Department of Medical Science and Public Health, University of Cagliari, Cagliari, Italy.
Mazzi F; Department of Medicine, University of Verona and AOUI Verona, Verona, Italy.
Baiardi G; Department of Internal Medicine, Pharmacology & Toxicology Unit, University of Genoa, Genoa, Italy.; Clinical Pharmacology Unit, EO Ospedali Galliera, Genoa, Italy.
Menotti S; Department of Medicine, University of Verona and AOUI Verona, Verona, Italy.
Piras F; Department of Internal Medicine, Pharmacology & Toxicology Unit, University of Genoa, Genoa, Italy.
Quintino S; EO Ospedali Galliera, Centro della Microcitemia, delle Anemie Congenite e dei Disordini del Metabolismo del Ferro, Genoa, Italy.
Robello G; EO Ospedali Galliera, Centro della Microcitemia, delle Anemie Congenite e dei Disordini del Metabolismo del Ferro, Genoa, Italy.
Mattioli F; Department of Internal Medicine, Pharmacology & Toxicology Unit, University of Genoa, Genoa, Italy.; Clinical Pharmacology Unit, EO Ospedali Galliera, Genoa, Italy.
Finco G; Department of Medical Science and Public Health, University of Cagliari, Cagliari, Italy.
Forni GL; EO Ospedali Galliera, Centro della Microcitemia, delle Anemie Congenite e dei Disordini del Metabolismo del Ferro, Genoa, Italy. .
De Franceschi L; Department of Medicine, University of Verona and AOUI Verona, Verona, Italy.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 22; Vol. 19 (1), pp. 22. Date of Electronic Publication: 2024 Jan 22.
Typ publikacji:
Letter
MeSH Terms:
Acute Pain*/drug therapy
Tramadol*
Anemia, Sickle Cell*/complications
Anemia, Sickle Cell*/drug therapy
Hemoglobinopathies*
Analgesia*
Adult ; Child ; Humans ; Ketorolac/therapeutic use
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
Autorzy:
Chetruengchai W; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, 10330, Thailand.; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
Phowthongkum P; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, 10330, Thailand. .; Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. .
Shotelersuk V; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, 10330, Thailand.; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Jan 02; Vol. 17 (1), pp. 9. Date of Electronic Publication: 2024 Jan 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Hemoglobinopathies*/genetics
Thalassemia*/genetics
Child ; Pregnancy ; Female ; Humans ; Thailand ; Exome Sequencing ; Exome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Tractional Retinal Detachment Related to Hemoglobin C Trait Retinopathy: A Case Report.
Autorzy:
Garrell-Salat X; Hospital Universitari Vall d'Hebron, Department of Ophthalmology, Barcelona, Spain.
Garcia-Arumi C; Hospital Universitari Vall d'Hebron, Department of Ophthalmology, Barcelona, Spain.
Bertolani Y; Hospital Universitari Vall d'Hebron, Department of Ophthalmology, Barcelona, Spain.
García SB; Hospital Universitari Vall d'Hebron, Department of Ophthalmology, Barcelona, Spain.
Buck P; Hospital Universitari Vall d'Hebron, Department of Ophthalmology, Barcelona, Spain.
Garcia-Arumi J; Hospital Universitari Vall d'Hebron, Department of Ophthalmology, Barcelona, Spain.
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Źródło:
Turkish journal of ophthalmology [Turk J Ophthalmol] 2023 Oct 19; Vol. 53 (5), pp. 318-321.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Hemoglobinopathies*/complications
Retinal Detachment*/diagnosis
Retinal Detachment*/etiology
Retinal Detachment*/surgery
Retinal Diseases*/diagnosis
Retinal Diseases*/etiology
Retinal Diseases*/surgery
Female ; Humans ; Young Adult ; Hemoglobin C ; Ischemia/complications
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Prevalence and spectrum of haemoglobinopathies in females of reproductive age group- A first tertiary care center experience in Punjab, North India.
Autorzy:
Narang V; Department of Pathology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
Jain A; Department of Pathology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
Grover S; Department of Pathology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
Soni A; Department of Pathology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
Narang M; Department of Obstetrics and Gynecology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
Taneja A; Department of Obstetrics and Gynecology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
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Źródło:
Indian journal of pathology & microbiology [Indian J Pathol Microbiol] 2023 Jul-Sep; Vol. 66 (3), pp. 564-567.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
beta-Thalassemia*/epidemiology
beta-Thalassemia*/genetics
Hemoglobinopathies*/epidemiology
Hemoglobinopathies*/genetics
Pregnancy ; Humans ; Female ; Young Adult ; Adult ; Prevalence ; Tertiary Care Centers ; India/epidemiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Precision Editing as a Therapeutic Approach for β-Hemoglobinopathies.
Autorzy:
Paschoudi K; Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.; Gene and Cell Therapy Center, Hematology Clinic, George Papanikolaou Hospital, Exokhi, 57010 Thessaloniki, Greece.
Yannaki E; Gene and Cell Therapy Center, Hematology Clinic, George Papanikolaou Hospital, Exokhi, 57010 Thessaloniki, Greece.; Department of Hematology, School of Medicine, University of Washington, Seattle, WA 98195, USA.
Psatha N; Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 May 31; Vol. 24 (11). Date of Electronic Publication: 2023 May 31.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Hemoglobinopathies*/genetics
Hemoglobinopathies*/therapy
Anemia, Sickle Cell*/genetics
Anemia, Sickle Cell*/therapy
Anemia, Sickle Cell*/metabolism
beta-Thalassemia*/genetics
beta-Thalassemia*/therapy
beta-Thalassemia*/metabolism
Humans ; CRISPR-Cas Systems ; Cell Line, Tumor ; Transcription Factors/metabolism ; DNA-Binding Proteins/metabolism ; Gene Editing/methods ; gamma-Globins/genetics ; gamma-Globins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Anemia in an ethnic minority group in lower northern Thailand: A community-based study investigating the prevalence in relation to inherited hemoglobin disorders and iron deficiency.
Autorzy:
Pyae TW; Graduate School, Khon Kaen University, Khon Kaen, Thailand.
Sanchaisuriya K; Centre for Research and Development of Medical Diagnostic Laboratories (CMDL), Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Athikamanon S; Boromrajonani College of Nursing Chai Nat, Chai Nat, Thailand.
Sanchaisuriya P; Foundation of Community System Research and Development Institute, Bangkok, Thailand.; Faculty of Public Health, Khon Kaen University, Khon Kaen, Thailand.
Srivorakun H; Centre for Research and Development of Medical Diagnostic Laboratories (CMDL), Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Chaibunruang A; Centre for Research and Development of Medical Diagnostic Laboratories (CMDL), Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Fucharoen S; Centre for Research and Development of Medical Diagnostic Laboratories (CMDL), Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
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Źródło:
PloS one [PLoS One] 2023 Jun 23; Vol. 18 (6), pp. e0287527. Date of Electronic Publication: 2023 Jun 23 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
beta-Thalassemia*/complications
Anemia, Iron-Deficiency*/etiology
Hemoglobinopathies*/epidemiology
Hemoglobinopathies*/genetics
Iron Deficiencies*
alpha-Thalassemia*/complications
Aged ; Humans ; Adult ; Middle Aged ; Ethnic and Racial Minorities ; Ethnicity ; Thailand/epidemiology ; Prevalence ; Cross-Sectional Studies ; Minority Groups
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh.
Autorzy:
Wendt AS; Research Department 2, Potsdam Institute for Climate Impact Research (PIK), Member of the Leibniz Association, Potsdam, Germany. .; Heidelberg Institute of Global Health, Heidelberg University, Heidelberg, Germany. .
Brintrup J; Hemoglobin Laboratory, Department of Pediatrics, University Hospital Ulm, Ulm, Germany.
Waid JL; Research Department 2, Potsdam Institute for Climate Impact Research (PIK), Member of the Leibniz Association, Potsdam, Germany.; Heidelberg Institute of Global Health, Heidelberg University, Heidelberg, Germany.; Bangladesh Country Office, Helen Keller International, Dhaka, Bangladesh.
Kader A; Bangladesh Country Office, Helen Keller International, Dhaka, Bangladesh.
Lambrecht NJ; Research Department 2, Potsdam Institute for Climate Impact Research (PIK), Member of the Leibniz Association, Potsdam, Germany.; Institute of Public Health, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Berlin, Germany.
Gabrysch S; Research Department 2, Potsdam Institute for Climate Impact Research (PIK), Member of the Leibniz Association, Potsdam, Germany.; Heidelberg Institute of Global Health, Heidelberg University, Heidelberg, Germany.; Institute of Public Health, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Berlin, Germany.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 19; Vol. 18 (1), pp. 192. Date of Electronic Publication: 2023 Jul 19.
Typ publikacji:
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
alpha-Thalassemia*/epidemiology
beta-Thalassemia*/epidemiology
Hemoglobinopathies*/epidemiology
Adult ; Child, Preschool ; Female ; Humans ; Infant ; Bangladesh/epidemiology ; Prevalence
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hemoglobinopathies, merozoite surface protein-2 gene polymorphisms, and acquisition of Epstein Barr virus among infants in Western Kenya.
Autorzy:
Olewe PK; Department of Biomedical Sciences, School of Health Sciences, Jaramogi Oginga Odinga University of Science and Technology, Bondo, Kenya.; University of New Mexico-Kenyan Global Health Programs Laboratories, Kisumu and Siaya, New Mexico, Kenya.
Awandu SS; Department of Biomedical Sciences, School of Health Sciences, Jaramogi Oginga Odinga University of Science and Technology, Bondo, Kenya.
Munde EO; University of New Mexico-Kenyan Global Health Programs Laboratories, Kisumu and Siaya, New Mexico, Kenya.; Department of Clinical Medicine, Kirinyaga University, Kerugoya, Kenya.
Anyona SB; University of New Mexico-Kenyan Global Health Programs Laboratories, Kisumu and Siaya, New Mexico, Kenya.; Department of Medical Biochemistry, School of Medicine, Maseno University, Maseno, Kenya.
Raballah E; University of New Mexico-Kenyan Global Health Programs Laboratories, Kisumu and Siaya, New Mexico, Kenya.; Department of Medical Laboratory Sciences, School of Public Health Biomedical Science and Technology, Masinde Muliro University of Science and Technology, Kakamega, Kenya.
Amolo AS; Department of Biological Sciences School of Biological, Physical, Mathematics, and Actuarial Sciences, Jaramogi Oginga Odinga University of Science and Technology, Bondo, Kenya.
Ogola S; Kenya Medical Research Institute - CGHR, Kisumu, Kenya.
Ndenga E; Department of Biomedical Sciences and Technology, School of Public Health and Community Development, Maseno University, Maseno, Kenya.
Onyango CO; University of New Mexico-Kenyan Global Health Programs Laboratories, Kisumu and Siaya, New Mexico, Kenya.
Rochford R; University of Colorado, Anshutz Medical Campus, Colorado, USA.
Perkins DJ; University of New Mexico-Kenyan Global Health Programs Laboratories, Kisumu and Siaya, New Mexico, Kenya.; Center for Global Health, Internal Medicine, University of New Mexico, New Mexico, NM, USA.
Ouma C; University of New Mexico-Kenyan Global Health Programs Laboratories, Kisumu and Siaya, New Mexico, Kenya. .; Department of Biomedical Sciences and Technology, School of Public Health and Community Development, Maseno University, Maseno, Kenya. .; Research and Innovations, Maseno University, Kisumu-Busia Road Private Bag, Maseno, Kenya. .
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Źródło:
BMC cancer [BMC Cancer] 2023 Jun 20; Vol. 23 (1), pp. 566. Date of Electronic Publication: 2023 Jun 20.
Typ publikacji:
Journal Article
MeSH Terms:
Epstein-Barr Virus Infections*/epidemiology
Epstein-Barr Virus Infections*/genetics
Malaria, Falciparum*
Malaria*/epidemiology
Malaria*/genetics
Hemoglobinopathies*
Child ; Animals ; Humans ; Infant ; Herpesvirus 4, Human/genetics ; Merozoites ; Kenya/epidemiology ; Polymorphism, Genetic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Diagnosis of α-thalassaemia by colorimetric gap loop mediated isothermal amplification.
Autorzy:
Chumworathayee W; Graduate Program in Molecular Medicine, Faculty of Science, Mahidol University, Bangkok, Thailand.; Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Salaya, Nakhon Pathom, Thailand.; Division of Biology, Faculty of Science and Technology, Rajamangala University of Technology, Thanyaburi, Pathumthani, Thailand.
Munkongdee T; Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Salaya, Nakhon Pathom, Thailand.
Buasuwan N; Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Salaya, Nakhon Pathom, Thailand.
Chaichompoo P; Department of Pathobiology, Faculty of Science, Mahidol University, Bangkok, Thailand.
Svasti S; Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Salaya, Nakhon Pathom, Thailand. .; Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, Thailand. .
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Źródło:
Scientific reports [Sci Rep] 2023 Jun 13; Vol. 13 (1), pp. 9612. Date of Electronic Publication: 2023 Jun 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
alpha-Thalassemia*/diagnosis
alpha-Thalassemia*/genetics
Hemoglobinopathies*
Humans ; Female ; Colorimetry ; Hydrops Fetalis/diagnosis ; Hydrops Fetalis/genetics
SCR Protocol:
LAMP assay
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Gene Therapy for β-Hemoglobinopathies: From Discovery to Clinical Trials.
Autorzy:
Segura EER; Molecular Biology Interdepartmental Doctoral Program, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Ayoub PG; Department of Molecular & Medical Pharmacology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Hart KL; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Kohn DB; Department of Microbiology, Immunology & Molecular Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Pediatrics (Hematology/Oncology), David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Eli and Edythe Broad Center for Stem Cell Research and Regenerative Medicine, University of California, Los Angeles, CA 90095, USA.
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Źródło:
Viruses [Viruses] 2023 Mar 09; Vol. 15 (3). Date of Electronic Publication: 2023 Mar 09.
Typ publikacji:
Journal Article; Review; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
beta-Thalassemia*/genetics
beta-Thalassemia*/therapy
Hematopoietic Stem Cell Transplantation*/methods
Hemoglobinopathies*/genetics
Hemoglobinopathies*/therapy
Anemia, Sickle Cell*/genetics
Anemia, Sickle Cell*/therapy
Humans ; Genetic Vectors/genetics ; Genetic Therapy/methods ; beta-Globins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program.
Autorzy:
Singha K; Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Muang, Khon Kaen, Thailand.; Faculty of Medicine, Mahasarakham University, Mahasarakham, Thailand.
Yamsri S; Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Muang, Khon Kaen, Thailand.
Chaibunruang A; Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Muang, Khon Kaen, Thailand.
Srivorakun H; Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Muang, Khon Kaen, Thailand.
Sanchaisuriya K; Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Muang, Khon Kaen, Thailand.
Fucharoen G; Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Muang, Khon Kaen, Thailand.
Fucharoen S; Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Muang, Khon Kaen, Thailand.
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Źródło:
PloS one [PLoS One] 2023 Apr 14; Vol. 18 (4), pp. e0283051. Date of Electronic Publication: 2023 Apr 14 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Hemoglobinopathies*/diagnosis
Hemoglobinopathies*/epidemiology
Hemoglobinopathies*/genetics
beta-Thalassemia*/diagnosis
beta-Thalassemia*/epidemiology
beta-Thalassemia*/genetics
alpha-Thalassemia*/genetics
Pregnancy ; Female ; Humans ; Retrospective Studies ; Prenatal Diagnosis/methods ; Amniotic Fluid
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Early prenatal diagnosis of hemoglobinopathy via celocentesis: Is it ready for use in routine clinical practice?
Autorzy:
Zhao Y; Prenatal Diagnosis Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu, China.
Li DZ; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, China.
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Źródło:
International journal of laboratory hematology [Int J Lab Hematol] 2023 Feb; Vol. 45 (1), pp. e17-e18. Date of Electronic Publication: 2022 Sep 04.
Typ publikacji:
Letter; Comment
MeSH Terms:
Prenatal Diagnosis*
Hemoglobinopathies*/diagnosis
Hemoglobinopathies*/genetics
Pregnancy ; Female ; Humans
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis.
Autorzy:
Fjeld B; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Faculty of Medicine, University of Oslo, Oslo, Norway.
Sudmann-Day ÅA; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
Grimholt RM; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Department of Life Sciences and Health, Oslo Metropolitan University, Oslo, Norway.
Larstorp ACK; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Faculty of Medicine, University of Oslo, Oslo, Norway.
Urdal P; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
Klingenberg O; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Faculty of Medicine, University of Oslo, Oslo, Norway.
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Źródło:
International journal of laboratory hematology [Int J Lab Hematol] 2023 Apr; Vol. 45 (2), pp. 250-259. Date of Electronic Publication: 2022 Dec 26.
Typ publikacji:
Review; Journal Article
MeSH Terms:
alpha-Thalassemia*/diagnosis
alpha-Thalassemia*/genetics
Hemoglobinopathies*
Child ; Adult ; Humans ; DNA Copy Number Variations ; alpha-Globins/genetics ; Erythrocytes ; Erythrocyte Indices
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 2273

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