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Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency and remains underdiagnosed in Brazil due to limited knowledge of its genetic landscape. Since 2024, the Centro Nacional d...

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...

Pulmonary hypertension (PH) is a severe cardiopulmonary disorder characterized by pulmonary vascular remodeling, which leads to increased pulmonary vascular resistance (PVR), right ventricular (RV) hypertrophy, and ultim...

Pancreatitis is a heterogeneous inflammatory disorder comprising both acute and chronic forms, with pathogenesis driven by interactions among genetic susceptibility, metabolic factors, inflammatory signaling, and disrupt...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

Abstract Background The prevalence of clinical signs and factors triggering muscle atrophy and rhabdomyolysis associated with an MYH1E321G mutation in Quarter Horses and related breeds (QH) remain poorly understood. Hypo...

BackgroundCurrent genetic risk stratification systems for acute myeloid leukemia (AML), including the 2017 European Leukemia Network (ELN), 2022 ELN, and 2023 China (CN) stratifications, inconsistently categorize key gen...

Introduction and aims: Submucous cleft palate (SMCP) is a congenital craniofacial malformation. While TBX22 is a known pathogenic gene, the potential role of TBX15 in SMCP remains unclear. This study aimed to investigate...

BackgroundMutations in the PLA2G6 gene cause a spectrum of neurodegenerative disorders, with autosomal recessive early-onset Parkinson’s disease (AREP) and dystonia-parkinsonism (DP) representing the two primary subtyp...

Abstract Background Sudden Infant Death Syndrome (SIDS) remains a leading cause of infant mortality worldwide, yet its underlying mechanisms are largely unknown. SIDS etiology is complex and involves the interplay betwee...

Abstract Background Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder associated with vitamin E deficiency. In humans, polymorphisms in genes invol...

Abstract Clinical text de-identification enables the use of electronic health records while protecting patient privacy, but public training data remain scarce and often have mismatched documentation styles. Recent works ...

Abstract Background Alcohol use disorder (AUD) represents a tremendous societal burden, yet few efficacious therapies are available and widely used. Pre-clinical and human observational data support fibroblast growth fac...

IntroductionKabuki syndrome (KS) is a rare, complex, multisystem, neurodevelopmental congenital disorder with characteristic phenotypic anomalies and pathogenic genetic variants of the KMT2D or KDM6A genes. KS is highly ...

BackgroundPrimary ciliary dyskinesia (PCD) management relies on mucociliary clearance to prevent bronchiectasis. While humoral immunodeficiencies have been reported in PCD, their clinical significance remains under-defin...

BackgroundThe research on human microbiota-associated (HMA) animal models is an important tool for studying the human microbiome and holds great potential for elucidating disease mechanisms and microbe-based therapeutic ...

The coevolution of the human diet and gut microbiome has played a pivotal role in shaping metabolic, immune, and epigenetic functions across human history. Dietary transitions from high-fiber ancestral patterns to modern...

Deficiency of adenosine deaminase 2 (DADA2) was identified in 2014 as a novel inborn error of immunity caused by biallelic pathogenic variants in ADA2. DADA2 patients express two predominant clinical phenotypes: (1) auto...

BackgroundT cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved early diagnosis, treatment, and survival of SCID infants and identified additional c...

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder caused by loss-of-function mutations in the FOXP3 gene, which is critical for the development of functional regulato...

IntroductionRelA deficiency is a recently recognized inborn error of immunity (IEI) caused by mutations in the RELA gene. RelA is a transcriptional factor in the NF-kB pathway. Deficiency of RelA leads to impaired downre...

Background22q11.2 deletion syndrome (DS) is the most common chromosomal microdeletion syndrome and a leading cause of developmental delay, congenital heart disease, and varying degrees of T cell immunodeficiency. While m...

Abstract Objective Breast cancer remains a major cause of morbidity and mortality among Ugandan women, who often present at younger age with advanced disease. Doxorubicin is central to treatment regimens, but current dos...

Nonsyndromic orofacial clefts (NSOC) are common congenital craniofacial developmental defects. Current evidence suggests that genetic factors, environmental exposures, and their interactions jointly contribute to the dev...