Buscar recursos académicos

Xue Yu,1,* Min Wu,2,* Lei Liu,3 Chun Zhang1 1Department of Breast Surgery, Peking University International Hospital, Beijing, People’s Republic of China; 2Department of Breast & Thyroid Surgery, Bei...

Cytogenetics has long represented a critical component in the clinical evaluation of hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot of genome-wide copy number and structural variatio...

RationaleGenetic testing can reveal a molecular diagnosis in 20–40% of patients with inborn errors of immunity (IEI) such as predominantly antibody deficiencies (PAD), though this varies by IEI type and other factors. ...

CTLA4 haploinsufficiency is caused by mutations in the CTLA4 gene. The loss of this important immune checkpoint leads to uncontrolled production of lymphocytes, causing infiltration of T cells into multiple organs (gastr...

Materias / palabras clave: Paternity testing; Spain; Identity (Psychology); Testing; Genetics; Paternidad; Pruebas; Identidad; Genética; Genetica

PurposePreimplantation genetic testing for aneuploidy (PGT-A) is essential for selecting embryos free from chromosomal abnormalities before transfer. However, challenges such as detection failures, mosaicism, and the lim...

Esraa Basalem,1 Nooran Badeeb1,2 1Department of Ophthalmology, King Fahad Armed Forces Hospital, Ministry of Defense Health Services, Jeddah, Saudi Arabia; 2Department of Surgery, Ophthalmology Division, College of Medic...

Background and AimsAcquired immunodeficiency in patients with hematological oncology is a serious and common complication, significantly impacting prognosis and quality of life. High doses of cytostatic drugs and the mal...

Abstract Background Antenatal hydronephrosis (AHN) is a common urological abnormality identified during prenatal ultrasound examination, with heterogeneous underlying causes. This study aimed to investigate the genetic e...

Abstract Background The basic sex form in bitter gourd is monoecious, characterized by a high male: female flower sex ratio of approximately 15:1. However, gynoecious and predominantly gynoecious lines have recently been...

Abstract Background and aims Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder characterized by connective tissue fragility; however, respiratory manifestations such as pulmonary hemorrhage and spontaneou...

Abstract Background Timely diagnosis and therapeutic management of rare diseases (RDs) are greatly hampered by limited clinical information and a lack of reliable epidemiological data. RDs constitute a heterogeneous grou...

Abstract Objective Pregnant people are increasingly utilizing TikTok to understand medical information. However, the accuracy and reliability of this content remain largely unexamined. This study aimed to evaluate videos...

Background Breast cancer is a leading cause of cancer-related mortality worldwide, with hereditary forms accounting for approximately 10% of cases. In Chile, significant gaps exist in genetic counseling and testing, part...

Abstract Background Non-invasive prenatal testing (NIPT) is a genetic test to screen fetal chromosomal abnormalities in pregnancy. Public reliance on short-video platforms for health information in China is increasing, y...

Abstract DNA methylation quantification in age-prediction models relies on only a few techniques with inherent limitations and biases, reducing the accuracy and reproducibility. We developed a new droplet digital PCR ass...

Interferonopathies are rare autoinflammatory disorders driven by a constitutive upregulation of the type I interferon (IFN-I) pathway, leading to chronic activation of this cytokine. Despite advances, direct IFN-I measur...

IntroductionSystemic lupus erythematosus (SLE) in prepubertal children is rare and can indicate a monogenic cause. Although outcomes are variable, monogenic lupus is often difficult to treat with long-term complications ...

Abstract Objective This study aims to document the first genetically confirmed cases of WS1 in Ecuador. Design and methods A Cross-Sectional study was conducted among individuals with early-onset insulin-dependent diabet...

Abstract Mortality rates from breast cancer in young women have fallen considerably in high-income countries but continue to rise in low-income countries such as Morocco. Young women with breast cancer face unique challe...

Primary Immunodeficiencies (PI) include more than 550 monogenic disorders presenting with recurrent infections, autoimmunity, and significant morbidity. Early molecular diagnosis is essential for guiding targeted treatme...

Abstract Background Necrotizing meningoencephalitis (NME) in the pug dogs is a fatal neuroinflammatory disease associated with rapid progression and poor response to conventional immunosuppressive therapy. Diagnosis is t...

Ziye Liu,1 Meiyu Deng,2 Bu Wang,2 Jianhua Liu,2 Wei Zhang,3,* Jianqing Zhao2,* 1Department of Respiratory Medicine, The First School of Clinical Medicine, Hebei North University, Zhangjiakou, Hebei, Peopl...

The research and studies of encryption and compression of digital files to the confidentiality and ease of dealing with networks and the Internet, by reducing the size of files transmitted through multimedia, and also us...