Article
Hematology
Duantida Songdej, Pacharapan Surapolchai, Patcharee Komwilaisak, Pornpun Sripornsawan, Supanun Lauhasurayotin, Nattiya Teawtrakul, Tarinee Rungjirajittranon, Adisak Tantiworawit, Phakatip Sinlapamongkolkul, Kitti Torcharus, Pranee Sutcharitchan, Bunchoo Pongtanakul, Nongnuch Sirachainan, Pimlak Charoenkwan
Summary: This study aimed to characterize red blood cell membrane disorders and their molecular features in Thailand. Through a national registry, data from 100 patients were collected and analyzed. The study found that hereditary elliptocytosis and hereditary pyropoikilocytosis were the predominant types of red blood cell membrane disorders observed in Thailand.
ANNALS OF HEMATOLOGY
(2023)
Article
Medical Laboratory Technology
Jorge M. Nieto, Sara Rochas-Lopez, Fernando A. Gonzalez-Fernandez, Ana Villegas-Martinez, Estefania Bolan-Calderon, Eduardo Salido-Fierrez, Elena Cela, Jorge Huerta-Aragoneses, Maria Ordon-Garcia, Maria J. Muruzabal-Sitges, Mariola Abio-Calvete, Julian Sevilla Navarro, Silvia de la Iglesia, Marta Morado, Sonsoles San Roman-Pacheco, Maria L. Martin-Mateos, Maria V. Recasens-Flores, Celina Benavente-Cuesta, Paloma Ropero-Gradilla
Summary: This study developed a 48-gene panel for diagnosing hereditary anemia (HA) using Next Generation Sequencing (NGS) and achieved an accuracy rate of 83.5% in diagnosing HA. The initial diagnosis of some patients changed, and previously unsuspected pathologies were identified, which has clinical relevance.
CLINICA CHIMICA ACTA
(2022)
Article
Medicine, General & Internal
Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W. -M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum
Summary: This study demonstrated the potential value of proactive genetic screening in identifying personal risk for actionable monogenic disorders, with nearly 15.5% of individuals screened showing clinically meaningful results. The findings suggest that genetic screening with multi-gene panels can play a crucial role in regular medical care by identifying health risks in patients.
Article
Anatomy & Morphology
Rafael Boscolo-Berto, Andrea Porzionato, Carla Stecco, Veronica Macchi, Raffaele De Caro
Summary: Recently, Italian legislation has established requirements for the donation of bodies and tissues for study and research purposes after death. The law includes compulsory criteria and minimum characteristics for institutions to be recognized as reference centers. This legislation provides guidelines for body donation programs and facilities not only in Italy but also in other countries.
Article
Allergy
Fernanda Gontijo Minafra, Luciana Araujo Oliveira Cunha, Rhaianny Gomes de Souza Mariano, Gabriela Assuncao Goebel, Lais Sezini de Lima, Jorge Andrade Pinto
Summary: This study evaluated mortality from Hereditary angioedema (HAE) in a large cohort, revealing that many deaths were caused by undiagnosed HAE. The findings emphasize the need for accurate diagnosis and treatment for HAE to prevent fatal outcomes.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2022)
Article
Genetics & Heredity
Maria S. Saez, Maria A. Aguirre, Diego Perez de Arenaza, Patricia Sorroche, Elsa Nucifora, Maria L. Posadas Martinez
Summary: This study presents the first prevalence report of TTR mutations in a reference center of amyloidosis in Argentina, with the most frequent genetic variant being p.Val50Met. The data demonstrate considerable phenotypic heterogeneity in patients with ATTRv.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Medical Laboratory Technology
Dorsa Zarrabian, Mirette Hanna
Summary: This retrospective study reviewed the clinical and transfusion records of 92 pediatric transfusion-dependent thalassemia patients and found that 9% of patients developed clinically significant alloantibodies. Blood matching for ABO, RhD, and K antigens can reduce the frequency of alloimmunization.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2023)
Article
Medical Laboratory Technology
Shou-Fang Qu, Hao-Ran Tao, Liu-Ji Qin, Wen-Xin Zhang, Shan Han, Shen-Yan Zhang, Jie Huang
Summary: The DBS reference materials developed in this study can be used to evaluate the testing capabilities of different laboratories and provide consistency and standardization for multi-center analysis in the screening of neonatal inherited metabolic disorders.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2023)
Article
Medicine, Research & Experimental
Xianfei Zeng, Xi Meng, Yafen Wang, Shijie Li, Qiao Liao, Zhengang Shan, Jieting Huang, Jiyuan Shi, Liwei Wang, Hongyan Chen, Xingbin Hu, Xia Rong
Summary: Blood donors play a crucial role in saving lives and the development of healthcare services. This study aimed to investigate the levels of serum ferritin and transferrin in blood donors and their influencing factors. The results showed that the levels of ferritin and transferrin were associated with age and type of donation. Platelet-only donors had significantly higher serum transferrin levels compared to whole blood donors. Moreover, there was a negative association between ferritin and transferrin levels. These findings provide valuable information for blood donation recruitment and screening strategies, contributing to the health of blood donors.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2023)
Article
Pharmacology & Pharmacy
Parisa Ebrahimisadr, Zahra Bakhshandeh, Hamidreza Majidiani
Summary: The study revealed that about 63% of beta-thalassemia patients referred to Tehran Regional Blood Transfusion Center had alloimmunization, with anti-K (Kell system), anti-D, and anti-E (Rhesus system) being the most abundant alloantibody variants. Regular RBC antigen phenotyping and receiving compatible blood for Kell and RH subgroups are suggested for all cases of transfusion-dependent thalassemia to address the issue of alloantibody production.
Article
Clinical Neurology
Eduardo Boiteux Uchoa Cavalcanti, Savana Camilla de Lima Santos, Carlos Eduardo Speck Martins, Daniel Rocha de Carvalho, Isabela Maria Pinto de Oliveira Rizzo, Maria Cristina Del Negro Barroso Freitas, Denise da Silva Freitas, Francineide Sadala de Souza, Altamir Monteiro Junior, Osvaldo Jose Moreira do Nascimento
Summary: This study aimed to describe the clinical, genetic, and epidemiological features of Charcot-Marie-Tooth disease (CMT) in Brazilian patients from a tertiary center, and to compare the data with previously published findings. The study found that the first decade of life was the most common period of disease onset in CMT patients, with PMP22, GJB1, and other genes being common causative genes. The study provides further insights into the frequency of CMT subtypes in a Brazilian clinical-based population and emphasizes the importance of rarer and previously undiagnosed variants in clinical practice.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2021)
Article
Biochemistry & Molecular Biology
Nathalia Kersting, Juliana Cristine Fontana, Fabiane Pohlmann de Athayde, Fernanda Marcante Carlotto, Bruna Accorsi Machado, Cristiane da Silva Rodrigues Araujoe, Leo Sekine, Tor Gunnar Hugo Onsten, Sandra Leistner-Segal
Summary: This study aimed to collect data on the profile of hereditary hemochromatosis (HH) population and the influence of HFE variants. Two centers, Hospital de Clinicas de Porto Alegre and Hospital Sao Vicente de Paulo, were enrolled. The results showed a higher allele frequency of the C282Y variant (0.252) and a higher prevalence of systemic arterial hypertension. Differences between centers were observed, with a higher frequency of H63D cases in HSVP. Genotypes were stratified based on the deleterious effect of the C282Y variant. The study highlights the importance of encouraging such research and emphasizes the need for greater attention to this population.
GENETICS AND MOLECULAR BIOLOGY
(2023)
Article
Multidisciplinary Sciences
Hanaa El-Karaksy, Hala Mohsen Abdullatif, Carolyne Morcos Ghobrial, Engy Adel Mogahed, Noha Adel Yasin, Noha Talal, Mohamed Rashed
Summary: This study analyzed the data of patients with hepatorenal tyrosinemia in Cairo University, Egypt from 2006 to 2019. The results showed that hepatorenal tyrosinemia is not uncommon in Egypt, with common symptoms of abdominal distention and abnormal liver functions. However, due to the high costs and limited availability of medication, most affected children cannot receive timely treatment.
Article
Medical Laboratory Technology
Helle Pilgaard Kristiansen, Anne Winther-Larsen
Summary: This study aimed to evaluate the influence of age and sex on osmoscan parameters. The results showed that infants < 3 months had lower osmoscan parameters and a left shift in the osmoscan curves. Therefore, age-matched controls are necessary for evaluating ektacytometry in newborns, but can be ignored in older children and adults.
CLINICA CHIMICA ACTA
(2023)
Article
Medicine, General & Internal
Giuseppe A. Ramirez, Stefania L. Calvisi, Rebecca De Lorenzo, Valentina Da Prat, Giorgia Borio, Gabriele Gallina, Federica Farolfi, Ludovica Cavallo, Maria Pascali, Jacopo Castellani, Domenico Baccellieri, Francesca Guzzo, Martina Baiardo Redaelli, Maria L. Azzolini, Ada C. Alba, Alberto Zangrillo, Enrica P. Bozzolo, Raffaella Scotti, Giuseppe Di Lucca, Lorenzo Piemonti, Patrizia Rovere Querini, Armando D'Angelo, Moreno Tresoldi
Summary: Patients with COVID-19 are at higher risk for thrombosis and can be stratified on admission based on lower Pao2/FiO2 ratio, higher D-dimer levels, and history of major hemorrhages.
