Results 11 to 20 of about 377,981 (256)

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy

Endocrinology, Diabetes & Metabolism, 2023
Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to ...
Valentina Rovelli, Graziella Cefalo, Vittoria Ercoli, Juri Zuvadelli, Turri Olivia, Daniela Graziani, Alberti Luisella, Davide Bassi, Alice Re Dionigi, Raed Selmi, Sabrina Paci, Elisabetta Salvatici, Giuseppe Banderali   +12 more
doaj   +1 more source

Diagnostic error and bias in the department of radiology: a pictorial essay

Insights into Imaging, 2023
Diagnostic imaging is an essential and indispensable part of medical diagnosis and treatment, and diagnostic errors or biases are also common in the department of radiology, sometimes even having a severe impact on the diagnosis and treatment of patients.
Li Zhang, Xin Wen, Jian-Wei Li, Xu Jiang, Xian-Feng Yang, Meng Li   +5 more
doaj   +1 more source

Speaking of the “Devil”: Diagnostic Errors in Interstitial Lung Diseases [PDF]

J Pers Med, 2023
Arcana R, Crișan-Dabija R, Caba B, Zamfir A, Cernomaz T, Zabara-Antal A, Zabara M, Arcana Ș, Marcu D, Trofor A.   +9 more
europepmc   +1 more source

Schizophrenia: a Narrative Review of Etiological and Diagnostic Issues [PDF]

Consortium Psychiatricum, 2022
BACKGROUND: Despite the fact that schizophrenia has already been described historically and researched for a long time, this disorder remains unclear and controversial in many respects, including its etiology, pathogenesis, classification, diagnosis, and
Sofia N. Oskolkova
doaj   +1 more source

Dataset from dried blood spot acylcarnitine for detection of Carnitine-Acylcarnitine Translocase (CACT) deficiency and Carnitine Palmitoyl Transferase 2 (CPT2) deficiency

Data in Brief, 2023
Clinical diagnosis of inborn errors of metabolism in the suspected patients is usually guided by the initial general investigations in the laboratory such as the concentration of ammonia, blood gases status, blood glucose and ketones.
Anasufiza Habib, Muhammad Irfan Bukhari Ahmad Nazri, Salina Abdul Rahman   +2 more
doaj   +1 more source

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population

Molecular Genetics and Metabolism Reports, 2020
Introduction: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder characterized by developmental delay, seizures, hypotonia, ataxia, skin rash/eczema, alopecia, conjunctivitis/visual problem/optic atrophy and metabolic acidosis ...
M. Mardhiah, Nor Azimah Abdul Azize, Yusnita Yakob, O. Affandi, Ngu Lock Hock, M.R. Rowani, Anasufiza Habib   +6 more
doaj   +1 more source

Patient and care partner assessments of diagnostic excellence in the emergency department: A cognitive interview study

International Journal of Nursing Studies Advances, 2023
Background: Diagnostic excellence encompasses both receiving an accurate and timely explanation of a health problem that was communicated well, and the process it took to get to the correct diagnosis.
Aaron A. Wiegand, Vadim Dukhanin, Natalia Gonzalez, Kathryn M. McDonald, Susan Peterson, Kelly T Gleason   +5 more
doaj   +1 more source

Types of therapeutic errors in the management of osteoporosis made by physicians and medical students

BMC Medical Education, 2022
Background Clinical reasoning is of high importance in clinical practice and thus in medical education research. Regarding the clinical reasoning process, the focus has primarily been on diagnostic reasoning and diagnostic errors, but little research has
Olivia Tausendfreund, Leah T. Braun, Ralf Schmidmaier   +2 more
doaj   +1 more source

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

Frontiers in Immunology, 2019
Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples.
Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose L. Marín-Soria, Rosa M. López-Galera, Sonia Pajares-García, Jose M. González de Aledo-Castillo, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Judit García-Villoria, Antonia Ribes, Pere Soler-Palacín   +15 more
doaj   +1 more source

Hereditary Angioedema Due to C1-Inhibitor Deficiency in Romania: First National Study, Diagnostic and Treatment Challenges [PDF]

Iranian Journal of Immunology, 2020
Background: Hereditary angioedema (HAE) is a rare genetic potentially life-threatening disease characterized by episodic non-pruritic subcutaneous and submucosal edema attacks in different parts of the body.
Gabriella Gabos, Valentin Nadasan, Eniko Mihaly, Daniela Dobru   +3 more
doaj   +1 more source