Background: Previous studies suggested an important role of impairments in T cell subsets in different stages during type 1 diabetes (T1D) development, while data regarding CD25high T cells and transforming growth factor b1 (TGFβ1), both T regulatory associated, remains controversial. We analyzed the level of (a) CD25high T cells (b) TGFβ1 in 17 first-degree relatives of patients with T1D in stage 1 (FDRs1) (GADA+, IA-2+); 34 FDRs in stage 0 (FDRs0) (GADA, IA-2); 24 recent-onset T1D in insulin-requiring state (IRS); 10 patients in clinical remission (CR); 18 healthy, unrelated controls (CTR).
Methods: T cell subsets were characterized by two-color immunofluorescence staining and flow cytometry; TGFβ1 was determined by ELISA, GADA, and IA-2 by RIA.
The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant :m.15309T>C (Ile188Thr). We provide detailed analysis of the clinical examinations of a male patient with bilateral optic neuropathy from the acute stage to 8 years of follow-up.
View Article and Find Full Text PDFIbrutinib and acalabrutinib, Bruton's tyrosine kinase inhibitors (BTKi) used for chronic lymphocytic leukemia (CLL) treatment, aim the same target but their off-target effects are different. The aim of this study was to use single-cell MALDI TOF mass spectrometry imaging to compare the CD19+ lymphocytes' mass spectra in untreated and ibrutinib- or acalabrutinib-treated subjects in order to better understand the therapeutic effect of BTKi. 180 cells from 9 male subjects divided in 3 groups (untreated, ibrutinib-treated and acalabrutinib-treated) were analyzed using MALDI-TOF mass spectrometry analyzer.
View Article and Find Full Text PDFDiagnostics (Basel)
October 2024
: Radiation-induced breast angiosarcoma (RIBAS) is a rare adverse event associated with postoperative breast irradiation. The data from the literature indicate that RIBAS occurs in less than 0.3% of patients treated with adjuvant radiotherapy for breast cancer.
View Article and Find Full Text PDFTriple-negative breast cancer (TNBC) is the most aggressive breast cancer subtype and is associated with high recurrence rates, a high incidence of distant metastases and poor overall survival. The aim of this study was to investigate the role of PD-L1, EGFR and AR expression in TNBC promotion and progression. To that end, we analyzed the immunohistochemical expression of these genes in 125 TNBC patients and their relation to clinicopathological parameters and survival.
View Article and Find Full Text PDFBackground And Aims: Modern mass spectrometry imaging (MSI) enables single cells' metabolism exploration. Aims of this study were development of the single-cell MSI of human CD19+ lymphocytes and metabolic profiling of chronic lymphocytic leukemia (CLL).
Materials And Methods: Blood donor (BD) samples were used for the optimization of CD19+ lymphocyte isolation and single-cell matrix-assisted laser desorption/ionization time-of-flight (MALDI TOF) MSI.
Objectives: to investigate the difference in serum tryptase levels between post-acute COVID-19 syndrome (PACS) patients and controls.
Background: PACS has been defined as symptoms that persist for more than 3 months after the onset of COVID-19. The pathogenesis is still unknown, but mast cell activation has been proposed as one of the mechanisms, and increased serum tryptase levels have been demonstrated in PACS patients.
We describe an optical method to directly measure the position-dependent thermal diffusivity of reflective single crystal samples across a broad range of temperatures for condensed matter physics research. Two laser beams are used, one as a source to locally modulate the sample temperature, and the other as a probe of sample reflectivity, which is a function of the modulated temperature. Thermal diffusivity is obtained from the phase delay between source and probe signals.
View Article and Find Full Text PDFWhen the memristor was fabricated for the first time, it launched an entirely new field of research. Many of the published papers regarding memristors are primarily theoretical and are based on computer simulations. Some recent papers analyze the memristor's programming circuits, but to the best of the authors' knowledge, no memristor has been embedded into a commercial analog circuit.
View Article and Find Full Text PDFAlpha-gal syndrome is an immunoglobulin E-mediated hypersensitivity characterized by delayed allergic reactions to ingested products containing alpha-gal carbohydrate. We present a patient with recurrent urticaria and suspected repaglinide hypersensitivity, who was eventually diagnosed with alpha-gal syndrome, wanting to emphasize possible drug allergy misdiagnosis and required caution with the medication choice.
View Article and Find Full Text PDFDiabetic retinopathy (DR) is the most common eye disease complication of diabetes, and hypovitaminosis D is mentioned as one of the risk factors. Vitamin D2 (ergocalciferol) and vitamin D3 (cholecalciferol) are the best-known forms of vitamin D. Calcitriol (1,25-dihydroxycholecalciferol) is the active form of vitamin D, with the sun being one of its main sources.
View Article and Find Full Text PDFCarbohydrate sulfotransferases (CHST) catalyse the biosynthesis of proteoglycans that enable physical interactions and signalling between different neighbouring cells in physiological and pathological states. The study aim was to provide an overview of emerging diagnostic and prognostic applications of CHST. PubMed database search was conducted using the keywords "carbohydrate sulfotransferase" together with appropriate inclusion and exclusion criteria, whereby 41 publications were selected.
View Article and Find Full Text PDFObstructive sleep apnea (OSA) is a sleep-related breathing disorder characterized by obstructions of the upper airway during sleep, resulting in repetitive breathing pauses accompanied by oxygen desaturation and arousal from sleep. OSA can be successfully treated with continuous positive airway pressure (CPAP), weight loss, positional therapy, oral appliances, hypoglossal nerve stimulation, and surgical procedures. It has been observed that untreated OSA is related to chronic disorders including hypertension, arrhythmias, congestive heart failure, coronary heart disease, diabetes mellitus, hyperlipidemia, stroke, depression, and cognitive decline.
View Article and Find Full Text PDFPapillary thyroid carcinoma (PTC) is generally considered an indolent cancer. However, patients with cervical lymph node metastasis (LNM) have a higher risk of local recurrence. This study evaluated and compared four machine learning (ML)-based classifiers to predict the presence of cervical LNM in clinically node-negative (cN0) T1 and T2 PTC patients.
View Article and Find Full Text PDFBackground: Since its outbreak in early 2020, the COVID-19 pandemic has diverted resources from non-urgent and elective procedures, leading to diagnosis and treatment delays, with an increased number of neoplasms at advanced stages worldwide. The aims of this study were to quantify the reduction in surgical activity for indeterminate thyroid nodules during the COVID-19 pandemic; and to evaluate whether delays in surgery led to an increased occurrence of aggressive tumours.
Methods: In this retrospective, international, cross-sectional study, centres were invited to participate in June 22, 2022; each centre joining the study was asked to provide data from medical records on all surgical thyroidectomies consecutively performed from Jan 1, 2019, to Dec 31, 2021.
Purpose: Despite the importance of hospital bed network during the pandemic, there are scarce data available regarding factors predictive of prolonged length of hospitalization of COVID-19 patients.
Methods: We retrospectively analyzed a total of 5959 consecutive hospitalized COVID-19 patients in period 3/2020-6/2021 from a single tertiary-level institution. Prolonged hospitalization was defined as hospital stay > 21 days to account for mandatory isolation period in immunocompromised patients.
The adipokine Leptin activates its receptor LEP-R in the hypothalamus to regulate body weight and exerts additional pleiotropic functions in immunity, fertility and cancer. However, the structure and mechanism of Leptin-mediated LEP-R assemblies has remained unclear. Intriguingly, the signaling-competent isoform of LEP-R is only lowly abundant amid several inactive short LEP-R isoforms contributing to a mechanistic conundrum.
View Article and Find Full Text PDFWe report the evolution of the electronic structure at the surface of the layered perovskite Sr_{2}RuO_{4} under large in-plane uniaxial compression, leading to anisotropic B_{1g} strains of ϵ_{xx}-ϵ_{yy}=-0.9±0.1%.
View Article and Find Full Text PDFSystemic sclerosis (SSc) is a systemic autoimmune disease characterised by generalized microangiopathy and fibrosis of skin and internal organs. The 2013 American College of Rheumatology (ACR) / European League Against Rheumatism (EULAR) criteria have contributed considerably to classifying patients with SSc in earlier stages, but they still lack sensitivity for a very early stage of the disease. Criteria for a very early diagnosis of SSc (VEDOSS) have been proposed by EULAR Scleroderma Trial and Research group (EUSTAR) which include three red flags: Raynaud's phenomenon, puffy fingers and antinuclear antibody positivity, plus SSc specific antibodies positivity and/or abnormal nailfold capillaroscopy.
View Article and Find Full Text PDFAicardi-Goutières syndrome (AGS) is an autosomal recessive disease that mimics congenital viral infection and mainly affects the brain, immune system, and skin. The dominant clinical symptom is the subacute onset of severe encephalopathy, which manifests as irritability, loss of ability, slowing of head growth, and poor nutrition. Arteriopathy in AGS is an uncommon manifestation usually associated with mutations in the SAMHD1 gene.
View Article and Find Full Text PDFPharmacoresistant epilepsy poses a great burden to patients, their families, and the whole healthcare system, with numerous social, economic, physical, and psychical consequences. Hence, it is a diagnosis that has to be made only in cases of high certainty, after all potential causes of epilepsy have been evaluated. One of the important causes of pharmacoresistant epilepsy is false pharmacoresistance, an entity that implies a condition in which poor disease control is not a consequence of the biology of the disease itself, antiepileptic drug inefficacy, and/or patient specificity.
View Article and Find Full Text PDFA 20-year-old female with refractory perinatal postischemic catastrophic epilepsy and frequent daily generalized atonic, tonic, tonic-clonic and focal seizures was hospitalized in the progressive phase of illness. The diagnosis was confirmed by semiology, interictal electroencephalogram (EEG), long-term video EEG monitoring, and brain magnetic resonance imaging. Repeated interictal EEG findings showed generalized spike and slow wave complexes with a 2-3 Hz frequency.
View Article and Find Full Text PDFEpilepsy is one of the most prevalent chronic neurological diseases, affecting about 70 million people worldwide. Patients with epilepsy often encounter cognitive dysfunction, which is influenced by different factors including age at the onset of epilepsy, etiology of epilepsy, type of seizures, seizure frequency and duration, psychiatric comorbidity, and antiepileptic drug (AED) therapy. Event-related potentials are useful, noninvasive, objective clinical and research instrument for evaluation of cognitive functions in patients.
View Article and Find Full Text PDFThe transition from paediatric care to adult care is often difficult, especially in children with chronic diseases like asthma. A significant number of children reach remission throughout puberty; consequently, they are not tracked down for subsequent follow-ups and are not included in transition programmes to adult care. This case report focuses on a young adult with asthma that began in childhood and went into remission during adolescence, only to experience a recurrence when the patient was a young adult.
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