Buscar recursos académicos

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...

Together with the environment, genetic factors can significantly influence sleep and its architecture. Monozygotic twins have greater similarity in terms of latency and duration of sleep cycles than dizygotic twins, in a...

Craniofacial morphogenesis is a highly coordinated developmental process governed by complex genetic and molecular interactions. Among these, the PAX family of transcription factors plays a pivotal role in the regulation...

Abstract Purpose Cri-du-chat syndrome (OMIM 123450) is caused by a deletion of the short arm of chromosome 5 and characterized by a distinct high-pitched cry, developmental delay/intellectual disability, and various dysm...

Transposable elements (TEs) make up almost half of the human genome and are among its most densely methylated regions. Their epigenetic silencing is crucial for genomic stability and immune homeostasis, and accumulating ...

The recognition of disorders of immune dysregulation, particularly those presenting with lymphoproliferation and systemic autoimmunity (International Union of Immunological Societies [IUIS] Group 4.6), has markedly incre...

Background and AimsPediatric lymphoproliferative disorders (LPD), both malignant and nonmalignant, may conceal underlying inborn errors of immunity (IEI), yet systematic screening is rarely performed. We hypothesized tha...

Kai Chen,1,* Yiqing Nong,1,* Ying Liu,2 Ziming Ye3 1Department of Neurology, Guangxi Medical University Kaiyuan Langdong Hospital, Nanning, 530023, People’s Republic of China; 2Department of Rehabilitat...

Background: Hemophilia is a genetic bleeding disorder resulting from a deficiency of specific coagulation factors. The most common forms, hemophilia A and B, are X-linked and mainly affect males, with females usually bei...

ABSTRACT Background and Aims The present review aims to ascertain whether reproductive disorders are associated with specific physical, mental, personality, and social traits. This information may be used to support or r...

Abstract Background Autoimmune conditions are common in women of reproductive age. They are associated with an increased risk of adverse pregnancy outcomes; whether this is causal is unclear. Our aim was to explore the c...

The article considers the problem of differential differences between severe personality disorders and affective spectrum disorders. A comparative analysis of symptoms, behavioral manifestations, and features of the deve...

Abortifacient disorders in small ruminants present a serious problem for livestock farmers, leading to financial losses and lower production rates. This review examines both infectious and non-infectious factors that cau...

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...

The rising concern of antimicrobial resistance, coupled with the continually challenging management of complicated diseases such as cancer, has provided momentum toward precision molecular medicine. This review provides ...

Immune dysregulation can lead to autoimmunity and autoinflammation. The goal of treatment is to balance targeted therapies while avoiding infections or other side effects, which becomes complicated with multiple diagnose...

BackgroundNewborn screening (NBS) with kappa-deleting recombination excision circles (KRECs) is primarily used to detect B cell lymphopenia and agammaglobulinemia as markers of inborn errors of immunity (IEIs). However, ...

Anti-glutamic acid decarboxylase (anti-GAD) autoimmunity possess a poorly understood diversity in the development of neurological manifestations with or without diabetes mellitus (DM) association. A possible genetic cont...

Idiopathic pulmonary fibrosis (IPF), the continuously advancing and frequently lethal idiopathic interstitial pneumonia, is pathologically characterized by abnormal deposition of extracellular matrix constituents, leadin...

Abstract Background Biallelic SPG7 mutations cause one of the most common forms of hereditary spastic paraplegia (HSP). Several reports have suggested that heterozygous SPG7 variants may also play a role in HSP, but also...

Importance Tinnitus, affecting 10% to 15% of the global population, is a debilitating condition often linked to hearing loss and neurological disorders. While air pollution is a known risk factor for respiratory and card...

Cobalamin (vitamin B12) is a vitamin with a defined role in human metabolism. Since its discovery in the 20th century, our understanding of its deficiency that results in multifaceted disorders with a significant impact ...

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...

Genetic hemochromatosis (GH) and alpha-1 antitrypsin (AAT) deficiency (AATD)  are two autosomal recessive disorders associated with an increased risk for liver injury. Among different AATD and GH genotypes, the M-Malton...