Results 71 to 80 of about 464,487 (319)

Emapalumab for Immune Effector Cell‐Associated Hemophagocytic Lymphohistiocytosis‐Like Syndrome Following CD19‐Directed CAR‐T in Two Patients With B‐ALL: Clinical and Biomarker Correlates

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Immune effector cell‐associated hemophagocytic lymphohistiocytosis‐like syndrome (IEC‐HS) is a life‐threatening hyperinflammatory toxicity distinct from cytokine release syndrome (CRS) and neurotoxicity following chimeric antigen receptor T‐cell (CAR‐T) therapy. In a single‐institution retrospective cohort of pediatric and young adult patients
Thomas J. Galletta, Jeremy D. Rubinstein, Christopher E. Dandoy, Ruby Khoury, Angela Faulhaber, Christine L. Phillips, Christa Krupski   +6 more
wiley   +1 more source

Hereditary Optic Neuropathy (Leber\u27s Hereditary Optic Neuropathy)

, 2022
Hereditary Optic Neuropathy - A hereditary optic neuropathy is caused by a genetic variant (or mutation) that causes dysfunction of the neurons (nerve cells) which form the optic nerve.
NANOS
core  

Clinical, Molecular and Geographical Features of Hereditary Breast/Ovarian Cancer in Latvia [PDF]

, 2005
Introduction The aim of the study is to evaluate the incidence and phenotype-genotype characteristics of hereditary breast and ovarian cancer syndromes in Latvia in order to develop the basis of clinical management for patients and their relatives ...
Gardovskis Janis, Miklasevics Edvins, Vanags Andrejs, Suchy Janina, Kurzawski Grzegorz, Milosevics, Edvins, Borosenko Viktors, Melbarde-Gorkusa Inga, Irmejs, Arvids, Borosenko, Viktors, Górski, Bohdan, Gardovskis Andris, Vanags, Andrejs, Irmejs Arvids, Kurzawski, Grzegorz, Gardovskis, Janis, Melbarde-Gorkusa, Inga, Bitina, Marianna, Bitina Marianna, Suchy, Janina, Górski Bohdan, Gardovskis, Andris   +21 more
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The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

Public support for healthcare-mediated disclosure of hereditary cancer risk information : Results from a population-based survey in Sweden

, 2020
Background: Targeted surveillance of at-risk individuals in families with increased risk of hereditary cancer is an effective prevention strategy if relatives are identified, informed and enrolled in screening programs.
Hellquist, BN, Melin, Beatrice,, Andersson, A, Hawranek, C, Hellquist, Barbro Numan, Hawranek, C., Hawranek, Carolina,, Numan Hellquist, Barbro, Grill, K, Öfverholm, Anna, Grill, Kalle,, Rosen, A., Hajdarevic, S, Hajdarevic, S., Andersson, Andreas,, Ofverholm, A, Rosén, Anna, Ehrencrona, H., Andersson, Andreas, Ehrencrona, Hans, Öfverholm, Anna,, Melin, B., Andersson, A., Grill, Kalle, Tham, Emma, Melin, Beatrice, Melin, B,, Ehrencrona, H, Rosén, Anna,, Hajdarevic, Senada,, Grill, K., Tham, E., Hajdarevic, Senada, Hawranek, Carolina, Rosen, A, Numan Hellquist, Barbro,, Hellquist, B. N., Tham, E,   +37 more
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Исследование бифуркационных диаграмм дробной динамической системы Селькова для описания автоколебательных режимов микросейсм

Vestnik KRAUNC: Fiziko-Matematičeskie Nauki
В статье исследуется динамические режимы дробной системы Селькова с переменной наследственностью (памятью). Эффект переменной наследственности означает, что наследственность изменяется во времени, т.е. зависимость текущего состояния системы от предыдущих
Паровик, Р.И.
doaj   +1 more source

Pilot study in neonates using low-level laser therapy in the immediate postoperative period of myelomeningocele [PDF]

Einstein (São Paulo), 2010
Objective: To analyze the tissue repair behavior after corrective surgical incision in neonates submitted to low-level laser therapy, in an attempt to diminish the incidence of postoperative dehiscence following the surgery for myelomeningocele performed
Nathali Cordeiro Pinto, Fernando Campos Gomes Pinto, Eduardo Joaquim Lopes Alho, Elisabeth Matheus Yoshimura, Vera Lucia Jornada Krebs, Manoel Jacobsen Teixeira, Maria Cristina Chavantes   +6 more
doaj  

A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa

Clinical and Experimental Obstetrics & Gynecology, 2020
Epidermolysis bullosa is a group of rare hereditary vesicular skin diseases associated with mutations of COL7A1. At present, there is no effective treatment.
Q. Yuan, D. Hu, T.T. Zhu, Q.W. Zhang, Y.H. Gong   +4 more
doaj   +1 more source

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

, 2012
Background Leber’s hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively ...
Baharak Hooshiar Kashani, Valentino, M. (M) L. (L), Bernd Wissinger, Sascha Fauser (144944), Dollfus, Helene, Valerio Carelli (24588), Barboni P., Helene Dollfus, Pizza, F. (F), Fauser Sascha, De Negri AM, Wissinger B., Chiara La Morgia, Chiara La Morgia (24595), Procaccio P, Piero Barboni, Fabio Pizza, Dollfus H., Valerio Carelli, Achilli, A., Liguori R., Dollfus H, Carelli, Valerio, Zeviani M, Torroni, Antonio, Barboni, P. (P), Rocco Liguori, Hooshiar Kashani, Baharak, P. Barboni, De Negri A. M., B. Leo-Kottler, Hooshiar Kashani Baharak, Amati-Bonneau Patrizia, Luisa Iommarini (144907), Vincent Procaccio, Massimo Zeviani (81459), Achilli, A. (A), Sadun, F., A. Achilli, Ducos Ghislaine, Wissinger, Bernd, Achilli A., Zeviani Massimo, Bonneau, D. (D), Christophe Orssaud, Massimo Zeviani, Maria Lucia Valentino, La Morgia C, Patrizia Amati-Bonneau (144951), Dollfus Helene, Maria Lucia Valentino (144915), Torroni, A., Maria Pala, Reynier, Pascal, Leo-Kottler Beate, La Morgia C., Iommarini Luisa, Amati-Bonneau, P. (P), Pizza F, Achilli Alessandro, Reynier, P. (P), Pizza, Fabio, Ducos, G. (G), Olivieri, A. (A), Procaccio V., Iommarini L., Hooshiar Kashani B., Valentino ML, C. Orssaud, Procaccio, Vincent, Leo-Kottler B., Torroni Antonio, Moulignier A., Liguori, R. (R), Zeviani, Massimo, Carelli Valerio, Orssaud, Christophe, Hooshiar Kashani, B. (B), Leo Kottler B, Liguori, Rocco, De Negri, A. (A) M. (M), Antoine Moulignier, Barboni P, Piero Barboni (24591), Dominique Bonneau, Wissinger, B. (B), Pala, M. (M), P. Reynier, P. Amati-Bonneau, A. Olivieri, M. Zeviani, Pizza F., C. La Morgia, Federico Sadun (144922), S. Fauser, Barboni, Piero, Orssaud, C. (C), Pala, Maria, Sadun, Federico, Baharak Hooshiar Kashani (144912), Moulignier, Antoine, Fauser, S. (S), Anna Maria De Negri, F. Pizza, Antonio Torroni, Fabio Pizza (144919), Sadun F, Bonneau D, Barboni, P., R. Liguori, Fauser, S., Valentino, M., Amati-Bonneau, Patrizia, Dominique Bonneau (144939), Pascal Reynier (92729), De Negri, Anna Maria, Ghislaine Ducos (144931), H. Kashani, Moulignier A, Moulignier, A. (A), La Morgia, Chiara, Alessandro Achilli, Orssaud Christophe, Carelli, V. (V), Procaccio, V. (V), Fauser, Sascha, Beate Leo-Kottler (144941), Sadun, F. (F), De Negri Anna Maria, Reynier Pascal, Amati-Bonneau P., Federico Sadun, Vincent Procaccio (68193), Pala M., Carelli V., Helene Dollfus (144926), Pascal Reynier, La Morgia Chiara, Beate Leo-Kottler, F. Sadun, Sadun F., Fauser S, M. Pala, Anna Olivieri, Antonio Torroni (42164), Rocco Liguori (144916), H. Dollfus, Fauser S., Leo-Kottler, B., Maria Pala (144910), Olivieri Anna, Anna Olivieri (144908), Amati Bonneau P, de Negri, A., Ghislaine Ducos, Anna Maria De Negri (144924), Moulignier, A., Pala Maria, Luisa Iommarini, Kashani, Hooshiar, Liguori, R., Torroni A., Pala, M., Liguori R, D. Bonneau, Bonneau, Dominique, M.L. Valentino, A. Moulignier, Zeviani, M. (M), Ducos, Ghislaine, Olivieri A., Sascha Fauser, Olivieri, Anna, La Morgia, C. (C), Ducos, G., Antoine Moulignier (144928), Iommarini L, Orssaud C, Bonneau D., A.M. De Negri, Bernd Wissinger (24666), L. Iommarini, Leo-Kottler, Beate, Pizza, F., Valentino M. L., Reynier P, Barboni Piero, Ducos G, Olivieri, A., Ducos G., Bonneau Dominique, Iommarini, Luisa, Leo Kottler B., Reynier P., Orssaud C., Christophe Orssaud (144936), Amati Bonneau P., V. Carelli, V. Procaccio, Zeviani M., Valentino Maria Lucia, Sadun Federico, Dollfus, H. (Helene), Leo-Kottler, B. (B), Iommarini, L. (L), A. Torroni, Procaccio Vincent, B. Wissinger, Wissinger Bernd, Wissinger B, Torroni, A. (A), Achilli, Alessandro, Alessandro Achilli (42157), Liguori Rocco, Valentino, Maria Lucia, Patrizia Amati-Bonneau, Pizza Fabio, Moulignier Antoine, G. Ducos, Iommarini, L.   +219 more
core   +1 more source