Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.

Autor: Kvarnung M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. malin.kvarnung@ki.se.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. malin.kvarnung@ki.se., Pettersson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Chun-On P; Division of Hematology/Oncology, Department of Pediatrics, Boston Children's Hospital; Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA., Rafati M; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, MD, USA., McReynolds LJ; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, MD, USA., Norberg A; Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden., Moura PL; Department of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden., Pesonen I; Department of Medicine Solna, Respiratory Medicine Unit, Karolinska Institutet, Stockholm, Sweden.; Department of Respiratory Medicine and Allergy, Karolinska University Hospital, Stockholm, Sweden., Chaireti R; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Hematology, Karolinska University Hospital, Stockholm, Sweden.; Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden., Grönros Söderholm B; Division of Nephrology, Danderyd University Hospital, Stockholm, Sweden., Burlin J; Division of Nephrology, Danderyd University Hospital, Stockholm, Sweden., Rydén J; Department of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Hematology, Karolinska University Hospital, Stockholm, Sweden., Lindberg EH; Department of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Hematology, Karolinska University Hospital, Stockholm, Sweden., Giri N; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, MD, USA., Savage SA; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, MD, USA., Agarwal S; Division of Hematology/Oncology, Department of Pediatrics, Boston Children's Hospital; Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA., Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden., Tesi B; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Nov 30. Date of Electronic Publication: 2024 Nov 30.

Telomere length and cancer risk: finding Goldilocks.

Autor: Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, 6E456, Bethesda, MD, 20892-6772, USA. savagesh@mail.nih.gov.

Publikováno v: Biogerontology [Biogerontology] 2024 Apr; Vol. 25 (2), pp. 265-278. Date of Electronic Publication: 2023 Dec 18.

Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations.

Autor: Gutierrez-Rodrigues F; Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., Groarke EM; Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., Thongon N; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX., Rodriguez-Sevilla JJ; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX., Catto LFB; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil., Niewisch MR; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD., Shalhoub R; Office of Biostatistics Research, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., McReynolds LJ; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD., Clé DV; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil., Patel BA; Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., Ma X; Office of Biostatistics Research, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., Hironaka D; Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., Donaires FS; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil., Spitofsky N; Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., Santana BA; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil., Lai TP; Center of Human Development and Aging, Rutgers New Jersey Medical School, The State University of New Jersey, Newark, New Jersey., Alemu L; Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., Kajigaya S; Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., Darden I; Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., Zhou W; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD., Browne PV; Department of Haematology, Trinity College Dublin, Dublin, Ireland., Paul S; Integrated Data Sciences Section, Research Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Lack J; Integrated Data Sciences Section, Research Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Young DJ; Translational Stem Cell Biology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., DiNardo CD; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX., Aviv A; Center of Human Development and Aging, Rutgers New Jersey Medical School, The State University of New Jersey, Newark, New Jersey., Ma F; Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL., De Oliveira MM; Bone Marrow Transplantation Unit, Federal University of Parana, Curitiba, Brazil., de Azambuja AP; Bone Marrow Transplantation Unit, Federal University of Parana, Curitiba, Brazil., Dunbar CE; Translational Stem Cell Biology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., Olszewska M; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Olivier E; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Papapetrou EP; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Giri N; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD., Alter BP; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD., Bonfim C; Bone Marrow Transplantation Unit, Federal University of Parana, Curitiba, Brazil.; Pediatric Blood and Marrow Transplantation Program, Pequeno Principe Hospital, Curitiba, Brazil., Wu CO; Office of Biostatistics Research, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., Garcia-Manero G; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX., Savage SA; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD., Young NS; Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD., Colla S; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX., Calado RT; Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

Publikováno v: Blood [Blood] 2024 Dec 05; Vol. 144 (23), pp. 2402-2416.

A "rotating menu" of medical uncertainty for families affected by telomere biology disorders: A qualitative interview study.

Autor: Pearce E; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA., Majid A; Office of the Associate Director, Healthcare Delivery Research Program, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA., Brown T; Trans-Divisional Research Program, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA., Wilsnack C; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA., Rising C; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA., Thompson AS; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA., Shepherd RF; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA., Niknafs A; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA., Werner-Lin A; School of Social Policy and Practice, University of Pennsylvania, Philadelphia, PA 19104, USA, Rockville, MD 20850., Gilkey MB; Department of Health Behavior, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, 135 Dauer Drive, 302 Rosenau Hall, Chapel Hill, NC 27599-7440, USA., Ribisl KM; Department of Health Behavior, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, 135 Dauer Drive, 302 Rosenau Hall, Chapel Hill, NC 27599-7440, USA., Hutson SP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA., Han PKJ; Behavioral Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health, USA., Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Publikováno v: SSM. Qualitative research in health [SSM Qual Res Health] 2024 Dec; Vol. 6. Date of Electronic Publication: 2024 Oct 05.

Advancements in microsurgery: A comprehensive systematic review of artificial intelligence applications.

Autor: Savage SA; Department of Plastic Surgery, Frankston Hospital, Peninsula Health, 2 Hastings Road, Frankston 3199, Australia; Department of Surgery, Peninsula Clinical School, Central Clinical School, Faculty of Medicine, Monash University, 2 Hastings Road, Frankston 3199, Australia. Electronic address: sasavage138@gmail.com., Seth I; Department of Plastic Surgery, Frankston Hospital, Peninsula Health, 2 Hastings Road, Frankston 3199, Australia; Department of Surgery, Peninsula Clinical School, Central Clinical School, Faculty of Medicine, Monash University, 2 Hastings Road, Frankston 3199, Australia., Angus ZG; Department of Surgery, Peninsula Clinical School, Central Clinical School, Faculty of Medicine, Monash University, 2 Hastings Road, Frankston 3199, Australia., Rozen WM; Department of Plastic Surgery, Frankston Hospital, Peninsula Health, 2 Hastings Road, Frankston 3199, Australia; Department of Surgery, Peninsula Clinical School, Central Clinical School, Faculty of Medicine, Monash University, 2 Hastings Road, Frankston 3199, Australia.

Publikováno v: Journal of plastic, reconstructive & aesthetic surgery : JPRAS [J Plast Reconstr Aesthet Surg] 2024 Nov 26; Vol. 101, pp. 65-76. Date of Electronic Publication: 2024 Nov 26.