- Chronic Lymphocytic Leukemia Research
- Lymphoma Diagnosis and Treatment
- Chronic Myeloid Leukemia Treatments
- Coronary Artery Anomalies
- Immunodeficiency and Autoimmune Disorders
- Meningioma and schwannoma management
- Connexins and lens biology
- Trigeminal Neuralgia and Treatments
- Intracranial Aneurysms: Treatment and Complications
- Renal and Vascular Pathologies
- Cerebrovascular and Carotid Artery Diseases
- Cardiovascular Effects of Exercise
- Cardiac electrophysiology and arrhythmias
- Cerebral Venous Sinus Thrombosis
- CRISPR and Genetic Engineering
- Renal function and acid-base balance
- RNA Interference and Gene Delivery
- Gastrointestinal Tumor Research and Treatment
- Vestibular and auditory disorders
- Cardiovascular Function and Risk Factors
- Mycobacterium research and diagnosis
- Aortic aneurysm repair treatments
- PI3K/AKT/mTOR signaling in cancer
- Whipple's Disease and Interleukins
- Advanced biosensing and bioanalysis techniques
Karolinska Institutet
2020-2025
Industrial University of Santander
2016-2025
Karolinska University Hospital
2020-2021
Abstract Irreversible inhibitors of Bruton tyrosine kinase (BTK), pioneered by ibrutinib, have become breakthrough drugs in the treatment leukemias and lymphomas. Resistance variants (mutations) occur, but contrast to those identified for many other inhibitors, they affect less frequently “gatekeeper” residue catalytic domain. In this study we carried out variation scanning creating 11 substitutions at gatekeeper amino acid, threonine 474 (T474). These were subsequently combined with...
Bruton's tyrosine kinase (BTK) is an enzyme needed for B-cell survival, and its inhibitors have become potent targeted medicines the treatment of malignancies. The initial activation event cytoplasmic protein-tyrosine kinases phosphorylation a conserved regulatory in catalytic domain, which BTK represented by 551. In addition, 223 (Y223) residue SRC homology 3 (SH3) domain has, more than 2 decades, generally been considered necessary full enzymatic activity. recognition potential importance...
Splice-switching oligonucleotides (SSOs) targeting BTK pre-mRNA offer a potential therapy for X-linked agammaglobulinemia (XLA). PMO-Pip6a conjugate treatment partially restores the B lineage phenotype, offering insights into splice correction in cell maturation.
Abstract Purpose The aim of this study was to characterize clinical effects and biomarkers in three patients with chronic mucocutaneous candidiasis (CMC) caused by gain-of-function (GOF) mutations the STAT1 gene during treatment Janus kinase (JAK) inhibitors. Methods Mass cytometry (CyTOF) used mononuclear leukocyte populations Olink assay quantify 265 plasma proteins. Flow-cytometric Assay for Specific Cell-mediated Immune-response Activated whole blood (FASCIA) reactivity against Candida...
Ibrutinib is a covalently binding inhibitor of the B-cell receptor signaling-mediator Bruton’s tyrosine kinase (BTK) with great efficacy in chronic lymphocytic leukemia (CLL). Common side effects like atrial fibrillation (AF), bleeding and infections might be caused by ibrutinib’s inhibition other kinases non-B cells. Five-year follow-up plasma biomarkers proximity extension assay immune cell numbers flow cytometry during ibrutinib treatment revealed that 86 265 investigated significantly...
Abstract Pharmacological inhibitors of Bruton tyrosine kinase (BTK) have revolutionized treatment B-lymphocyte malignancies and show great promise for dampening autoimmunity. The predominant BTK tether irreversibly by covalently binding to cysteine 481 in the catalytic domain. Substitution serine (C481S) is most common mechanism acquired drug resistance. We generated a novel C481S knock-in mouse model and, using battery tests, no overt phenotype was found. B lymphocytes from animals were...
The principal function of the ventricular conduction system is rapid electrical activation ventricles. aim this study to conduct a morphometric pinpoint morphological parameters that define cardiac cells, allowing us distinguish them from other cells. Five male horse hearts and five dog were used in study. fixed 5% formaldehyde solution. Histological sections 5 μm thickness acquired stained with hematoxylin-eosin Masson's trichrome cells their junctions identified by desmin, connexin 40 PAS...
In spite of its importance as an experimental model, information on the renal artery in pigs is scarce.The objective this work was to determine morphological characteristics (RA) and branches pigs.One hundred twenty one (121) pairs kidneys destined slaughter by stunning were studied.The RA perfused with polyester resin (Palatal 85 % t Styrene 15 %) subjected KOH infusion (potassium hydroxide) for total corrosion.Calibers measured, trajectories relations adjacent arterial structures...
Objective: To determine the anatomy expression of left coronary artery and its branches in horse. Methods: The of 120 hearts horse were perfused with semi-synthetic resin (85% Palatal GP40L 15% styrene) and mineral red dye. A digital calibrator (Mitutoyo®) was used to measure external diameter branches. The samples assessed for existence myocardial bridges. The findings obtained compared those from humans, donkeys, pigs, elephants, camels. Results: The had a 6.76 ± 2.1 mm. It bifurcated...
The objective of this research was to characterise morphologically the right coronary artery and its branches in horse. arteries 120 horse hearts were perfused with semi-synthetic resin (85% Palatal GP40L; 15% styrene) mineral red dye. morphological biometric characteristics (digital calibrator) assessed. diameter 6.72 ± 2.58 mm. interventricular subsinusal branch ended at apex 94 specimens (78.4%). circumflex originated site intersection subsinnusal sulcus atrioventricular septum, extended...
Background: The number of studies on the cerebellar arteries has increased. purpose this study was to determine morphological expression posterior inferior artery in a sample Colombian population. Materials and methods: One hundred eighty-six fresh cadavers were studied. In each specimen, vertebral injected with 100 mL semi-synthetic resin, dyed mineral red. Results: 93 blocks brainstem cerebellum evaluated, 174 (93.5%) found. Also, there 12 (6.5%) ageneses. There single 159 (91.4%) samples...
Objective An adequate knowledge of the anterior inferior cerebellar artery (AICA) is oriented to morphological sciences, clinical management and surgical planning posterior fossa. We aimed determine morphology AICA in a sample from Colombian population.Method studied 92 fresh cadavers. For each specimen, vertebral arteries were injected with 100 cc semi-synthetic resin (a mixture Palatal E210® BASF 80 Styrene 20 cc) dyed mineral red. The biometrics variables registered.Results originated at...
Papillary muscles in the left ventricle present multiple anatomic expressions that are relevant for medical fields focusing on understanding of clinical events involving these structures. Here, aim was to perform a morphological characterization papillary sample Colombian population. In study were included eighty-two hearts from male individuals who underwent autopsy at Institute Legal Medicine and Forensic Sciences Bucaramanga, Colombia. each heart carefully performed longitudinal incision...
Efficient delivery of the CRISPR/Cas9 system and its larger derivatives, base editors, prime editors remain a significant challenge, particularly in tissue-specific stem cells induced pluripotent (iPSCs). This study optimized novel family cell-penetrating peptides, hPep, to deliver gene-editing ribonucleoproteins. The hPep-based nanoparticles enable highly efficient biocompatible Cre recombinase, Cas9, base-, editors. Using robust nearly complete genome editing was achieved human cells:...
to determine the morphological features of superior cerebellar artery and its branches in a Colombian population sample. Ninety-three arteries from cadaveric donors were studied. In each sample, vertebral injected with semi-synthetic resin. The biometric variables measured. all samples originated basilar at distance 27.22 ± 3.13 mm vertebrobasilar junction. A symmetric origin was identified 40 (43%), asymmetric 53 (57%), unilateral duplication 41 (22,1%). bifurcated rostral caudal branches,...
To characterize morphologically the coronary sinus and its tributaries in short hair sheep, this descriptive cross-sectional study evaluated 62 hearts of sheep. A semi-synthetic resin (Palatal GP40L 85%; styrene 15%) impregnated with mineral color blue was perfused through sinus. We morphological characteristics a digital calibrator biometrics tributaries. The length (± standard deviation) 24.85 ± 4.94 mm. Proximal distal calibers were 7.55 1.54 mm, respectively. It cylindrical shape 44...
RESUMEN:Se presenta un raro caso de múltiples variaciones en la cavidad abdominal espécimen cadavérico 50 años género masculino, del laboratorio anatomía Universidad Industrial Santander (Bucaramanga-Colombia).Se observó arteriales (arteria renal adicional derecha y origen rama hepática desde arteria mesentérica superior), venosa (vena adicional) vía urinaria (doble uréter el lado derecho).Estas diversas variantes anatómicas además suscitar interés académico, deben ser consideradas descritas...
Aim: The aim of this investigation was characterize morphologically the cerebellar artery and its branches in a specimen autopsy material.
 Methods: This descriptive cross-sectional study evaluated anatomical characteristics arteries their 93 brain stem cerebellum blocks obtained from fresh cadavers. specimens were perfused bilaterally channeling proximal segments internal carotid vertebral with semi-synthetic resin (Palatal GP40L 85%; styrene 15%) impregnated mineral red dye. We...