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Cartilage-hair hypoplasia is a rare autosomal recessive skeletal dysplasia. It is particularly prevalent in the Finnish and Amish populations but increasing reports have been documented worldwide. It is caused by pathoge...

Abstract Hepatic Epstein-Barr virus-positive inflammatory follicular dendritic cell sarcoma (EBV+IFDCS) is an extremely rare low-grade malignant tumor. Due to its rarity and lack of specific symptoms, laboratory markers,...

CARMIL2 is a protein required for T cell activation, specifically for CD28 and CARMA-1/PKC coupling and NF-kB signaling. CARMIL2 deficiency has pleiotropic presentations, which can include recurrent viral and mucocutaneo...

RNU4ATAC-opathies are genetic conditions that include growth restriction, skeletal dysplasia, and cognitive impairment. Historically, these have been divided phenotypically into microcephalic osteodysplastic primordial d...

The IKAROS family of zinc finger transcription factors (IKZF1–4) plays a central role in lymphocyte development and immune regulation. Pathogenic IKZF1 variants produce a wide phenotypic spectrum related to whether the...

With the rapid advancement of sequencing technology, third-generation sequencing, particularly single-molecule real-time sequencing and nanopore sequencing, has opened new avenues for the precise prevention and control o...

Abstract Background Resistance to thyroid hormone (RTH) is a rare endocrine disorder, most commonly caused by mutations in the thyroid hormone receptor β (TRβ) gene, resulting in the RTH beta (RTHβ) subtype. In contra...

Abstract Background The prevalence and spectrum of PALB2 pathogenic/likely pathogenic variants (PV/LPVs) may vary across different regions, and these have not yet been analysed and reported in Slovenian HBOC families. Me...

We present the case of a 50-year-old man with a history of rheumatoid arthritis, chronic bronchitis, with a history of multiple lung infections, including Mycobacterium avium complex and Aspergillus terreus starting in h...

IntroductionRituximab, an anti-CD40 antibody, is a commonly used B cell-depleting therapy. We present a case that illustrates the unveiling of an underlying common variable immune deficiency (CVID) after completion of ri...

Abstract Objective Describe the clinical course and diagnostic and genetic findings in a cat with X‐linked myotubular myopathy. Case Summary A 7‐month‐old male Maine coon was evaluated for progressively worsening g...

Abstract Background Thalassemia is the most prevalent single-gene disorder in Sri Lanka, imposing a significant socioeconomic and healthcare burden. Early carrier detection is essential for genetic counselling and the pr...

Abstract Congenital cytomegalovirus (CMV) infection is the leading non-genetic cause of infant hearing loss worldwide, and a significant cause of neurodevelopmental disabilities. Reliance on polymerase chain reaction (PC...

BackgroundThis study aimed to evaluate whether Mycoplasma pneumoniae resistance gene detection can independently guide antibiotic therapy for Mycoplasma pneumoniae pneumonia in children and to identify key predictors for...

In poorly known groups for which data are insufficient to develop biologically plausible model-based approaches to phylogeographical analyses, a ‘first hypotheses’ protocol is suggested as offering the best way to ge...

Abstract Background As dementia cases continue to rise, effective prevention strategies are urgently needed. However, objective biomarkers that directly reflect lifestyle factors remain limited. Life’s Essential 8 (LE8...

The rapid annual increase in conditions classified as inborn errors of immunity (IEI), along with associated genetic variants, creates diagnostic challenges. The comprehensive nature of exome sequencing (ES) and genome s...

Abstract The objective of this research was to evaluate the control of coccidiosis in the litter of commercial poultry housing in the Western region of Paraná, Brazil, which adopts sanitary management to control Salmone...

The routine semen evaluation assessing sperm concentration, motility and morphology, does not identify subtle defects in sperm chromatin architecture. Bulls appear to have stable chromatin, with low levels of DNA fragmen...

ABSTRACT Background Observational studies link insomnia to hippocampal atrophy, yet causal inference remains limited by confounding and reverse causality. While Mendelian randomization (MR) studies have explored sleep‐...

Accidental ignition of energetic compounds by electrostatic discharge poses significant safety risks, highlighting the need for precise prediction of electric spark sensitivity. Here we develop a novel interpretable mach...

BackgroundProgressive multifocal leukoencephalopathy (PML) is a rare opportunistic brain infection caused by the JC virus, and idiopathic PML is increasingly recognized. Deeper profiling of such patients often reveals oc...

Introduction: Ketamine is a widely used intravenous dissociative anaesthetic and analgesic agent with a high safety profile. Increasingly, it is being used as a recreational drug for its hallucinogenic properties. Chroni...

With the advancement of personalized cancer immunotherapies, new tools are needed to identify tumor antigens and evaluate T-cell responses in model systems, specifically those that exhibit clinically relevant tumor progr...