Results 101 to 110 of about 114,297 (258)

In silico study of peculiarities of metabolism of erythrocytes with glucosephosphate isomerase deficiency

Regulatory Mechanisms in Biosystems, 2019
Glucose phosphate isomerase (GPI) deficiency, the third most common cause of hereditary nonspherocytic hemolytic anemia, is associated with the mutation of the GPI gene. The results of the GPI deficiency are premature aging of erythrocytes, macrocytosis,
O. I. Dotsenko
doaj   +1 more source

Progeny, June 2013, Vol 29, no.1 [PDF]

, 2013
This newsletter from The Department of Public Health about perinatal health care and ...

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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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Metformin Inhibits Trophoblast Ferroptosis by Suppressing ATF2 and Activating the PI3K/Akt/Nrf2 Pathway to Improve Gestational Diabetes Mellitus

The FASEB Journal, Volume 40, Issue 18, 30 September 2026.
Metformin suppresses ATF2 expression, activating the PI3K/Akt pathway and promoting Nrf2 nuclear translocation. This upregulates GPX4, inhibiting ferroptosis in trophoblast cells. Erastin blocks system Xc−, depleting GSH and promoting ferroptosis. LY294002 and ML385 inhibit the pathway, validating the mechanism.
Dandan Xia, Yuhui Zhang, Wenjie Liu, Siyu Li, Chenying Zhang, Guangtong She, Huiyan Wang   +6 more
wiley   +1 more source

Hereditary spherocytosis due to a novel variant, p.Q1034X, in the beta subunit of the spectrin gene: A case report

Pediatric Hematology Oncology Journal
Background: Heterozygous pathogenic variants of SPTB cause hereditary spherocytosis (HS) in a quarter of cases. Case report: A 14-day-old male presenting with persistent anemia and hyperbilirubinemia was diagnosed with HS by increased red blood cell ...
Emmalee M. Kugler, Akash Patel, Faraz Afridi, Maria I. Scarano, Rafat Ahmed   +4 more
doaj   +1 more source

Mirror covered tunnel phototherapy increases the efficacy of phototherapy for neonatal jaundice [PDF]

Objective: Neonatal jaundice (NJ) is one of the most common cause of neonatal hospital admission. Phototherapy is the main therapy for hyperbilirubinemia of neonatal jaundice. The efficacy of phototherapy depends on the dose and wavelength of light used
امینی ثانی, نیره, شمشیرگران, سید مرتضی, صالح زاده, فرهاد, میرزا رحیمی, مهرداد, جهانگیری, سپیده, شرقی, افشان, حبیب زاده, شهرام   +6 more
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RISK FACTORS OF RETINOPATHY OF PREMATURITY IN CHILDREN BORN FROM MULTIPLE PREGNANCIES

Офтальмохирургия, 2017
Purpose. To identify significant risk factors for the «threshold» retinopathy of prematurity (ROP) in children born from multiple pregnancies.Material and methods. The paper is based on a retrospective analysis of case histories of premature infants with
I. E. Panova, I. A. Chervonyak, E. P. Tagieva   +2 more
doaj   +1 more source

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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Hyperbilirubinemia: Does It Matter? [PDF]

, 1999
Serum bilirubin concentrations are increased in several hematological and hepatic disorders; however, hyperbilirubinemia, often of familial origin, may occur without overt signs of hemolysis or evident liver disease.
Giulia Martina Cavestro, GUATTI ZULIANI C., CAVESTRO, Giulia Martina, OKOLICSANYI L, Lajos Okolicsanyi, Claudia Guatti-Zuliani   +5 more
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Quizartinib in Combination With FLAG‐IDA for Relapsed or Refractory Acute Myeloid Leukemia (FLAG‐QUIDA): A PETHEMA Phase I‐II Trial

American Journal of Hematology, Volume 101, Issue 9, Page 2258-2268, September 2026.
ABSTRACT Quizartinib is a tyrosine kinase inhibitor with single agent activity in patients with relapsed or refractory (R/R) acute myeloid leukemia (AML) and has demonstrated efficacy in first‐line therapy when combined with intensive chemotherapy in both FLT3 ITD‐negative and positive AML.
Teresa Bernal, Javier Zambrano Márquez, Rebeca Rodríguez‐Veiga, Eduardo Rodríguez‐Arbolí, Juan Manuel Bergua‐Burgués, Susana Vives, Montserrat Arnán, Pilar Martínez Sánchez, Pilar Herrera‐Puente, Josefina Serrano‐López, Vicente Rubio, Inmaculada Marchante‐Cepillo, Marta Cervera‐Calvo, Andrés Novo García, Rosa Fernández Martín, Cristina Gil Cortés, Carlos Rodríguez‐Medina, Victor Noriega‐Concepción, Ana Alfonso‐Piérola, Carmen Loredo, María Antuña‐Casal, Blanca Boluda, Isabel Cano‐Ferri, Evelyn Acuña‐Cruz, Laura Torres‐Miñana, Joaquín Sánchez‐García, Cristina Bilbao, Maria Teresa Gómez‐Casares, David Martínez Cuadrón, Pau Montesinos   +29 more
wiley   +1 more source