Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.

Introduction: Acute onset of severe psychiatric symptoms or regression may occur in children with premorbid neurodevelopmental disorders, although typically developing children can also be affected. Infections or other stressors are likely triggers. The underlying causes are unclear, but a current hypothesis suggests the convergence of genes that influence neuronal and immunological function.

Do the Gender and the Number of Comorbidities and the Use of Tertiary Prevention Play a Role in the Severity of Anxiety and Depression in Patients with Coronary Artery Disease? A POLASPIRE II Study.

The need to conduct research on anxiety and depression in patients with coronary artery disease in connection with factors such as gender or implemented tertiary prevention is very important for drawing practical conclusions and, consequently, implementing new recommendations and procedures. The aim of the study was to attempt to answer the question whether gender and the number of comorbidities, as well as the application of tertiary prevention principles, play a role in the severity of anxiety and depression in the studied group of patients with coronary artery disease. The study involved 765 patients from 11 Polish cardiology centers.

Deep brain stimulation of the subiculum in the treatment for refractory temporal lobe epilepsy due to unilateral mesial temporal lobe sclerosis.

Temporal lobe epilepsy (TLE) is the most common form of drug-resistant epilepsy. The main pathological changes primarily involve hippocampal sclerosis (HS). Early resective surgery of the sclerotic hippocampus is typically associated with favorable clinical outcomes.

Endoscopic resection of residual rectal neoplasia after definitive chemoradiotherapy for rectal cancer.

The conventional approach to treating locally advanced rectal cancer, commonly defined as cT3 or cT4 primary tumors or with nodal metastases, involves chemoradiation (CRT) followed by surgical resection. There is a growing recognition of the potential for nonsurgical management following CRT or total neoadjuvant therapy (TNT), which allows for organ preservation. "Watch and wait" strategy may be considered if complete clinical response is achieved.

Large haemorrhage within glioblastoma mimicking haemorrhagic stroke and coexistance of meningioma: a case of collision tumours.

Intracranial collision tumours are rare pathologies in which two distinct neoplasms are found in the same location. We present an unusual case of an intracranial collision tumour composed of meningothelial meningioma (CNS WHO G1) and glioblastoma (IDH-wildtype, CNS WHO G4). This collision tumour was found in a 64-year-old man.

MCPIP1 functions as a safeguard of early embryonic development.

Monocyte chemoattractant protein-induced protein 1 (MCPIP1), also called Regnase-1, is an RNase that has been described as a key negative modulator of inflammation. MCPIP1 also controls numerous tumor-related processes, such as proliferation, apoptosis and differentiation. In this study, we utilized a zebrafish model to investigate the role of Mcpip1 during embryogenic development.

The long-term effects of multidrug immunosuppressive protocols based on calcineurin inhibitors and conversion to rapamycin on the morphology, apoptosis, and proliferation of rat salivary glands.

Background: The effect of multidrug immunosuppressive protocols on the salivary glands is still unknown. This study aimed to determine the influence of immunosuppressive regimens based on calcineurin inhibitors (CNIs) and conversion to rapamycin on the morphology, apoptosis, and proliferation of rat salivary glands.

Methods: Male rats received cyclosporin A (CsA), tacrolimus (FK-506), mycophenolate mofetil (MMF), rapamycin (Rapa), and prednisone (Pre) according to three-drug protocols: CMP (CsA, MMF, and Pre), CMP/R (CsA, MMF, and Pre with conversion to Rapa), TMP (FK-506, MMF, and Pre), and TMP/R (FK-506, MMF, and Pre with conversion to Rapa).

Clinical efficacy and safety of anterior thalamic deep brain stimulation for intractable drug resistant epilepsy.

Background: Deep brain stimulation of the anterior nucleus of the thalamus (ANT DBS) is a neuromodulation therapy for patients with refractory focal seizures evolving into bilateral tonic-clonic seizures when pharmacotherapy as well other neuromodulation techniques including vagus nerve stimulation or responsive neurostimulation have failed.

Objective: We performed a prospective single-center study investigating the clinical efficacy and exact ANT DBS lead location in patients with DRE.

Methods: The primary outcome measure was the proportion of patients with more than 50 % reduction in diary-recorded seizures when compared to three preoperative months (baseline seizure frequency).

Histone Deacetylases (HDAC) Inhibitor-Valproic Acid Sensitizes Human Melanoma Cells to Dacarbazine and PARP Inhibitor.

The inhibition of histone deacetylases (HDACs) holds promise as a potential anti-cancer therapy as histone and non-histone protein acetylation is frequently disrupted in cancer, leading to cancer initiation and progression. Additionally, the use of a histone deacetylase inhibitor (HDACi) such as the class I HDAC inhibitor-valproic acid (VPA) has been shown to enhance the effectiveness of DNA-damaging factors, such as cisplatin or radiation. In this study, we found that the use of VPA in combination with talazoparib (BMN-673-PARP1 inhibitor-PARPi) and/or Dacarbazine (DTIC-alkylating agent) resulted in an increased rate of DNA double strand breaks (DSBs) and reduced survival (while not affecting primary melanocytes) and the proliferation of melanoma cells.

Consensus definition of sludge and microlithiasis as a possible cause of pancreatitis.

Objective: In up to 20% of patients, the aetiology of acute pancreatitis (AP) remains elusive and is thus called idiopathic. On more detailed review these cases can often be explained through biliary disease and are amenable to treatment. Findings range from biliary sludge to microlithiasis but their definitions remain fluid and controversial.

Endoscopic management of patients with high-risk colorectal colitis-associated neoplasia: a Delphi study.

Background And Aims: Current guidelines recommend endoscopic resection of visible and endoscopically resectable colorectal colitis-associated neoplasia (CAN) in patients with inflammatory bowel disease (IBD). However, patients with high-risk CAN (HR-CAN) are often not amenable to conventional resection techniques, and a consensus approach for the endoscopic management of these lesions is presently lacking. This Delphi study aims to reach consensus among experts on the endoscopic management of these lesions.

COVID-19 vaccination reduces mortality in patients on maintenance hemodialysis.

Patients with chronic kidney disease on maintenance hemodialysis (HD) have a very high risk of death in the course of COVID-19. The aim of the study was to assess the effectiveness of COVID-19 vaccination to reduce the incidence of COVID-19 and the fatality rate in HD patients. A retrospective registry-based cohort study was performed in all HD adult patients in the Pomeranian Voivodeship.

Kidney length normative values - new percentiles by age and body surface area in Central European children and adolescents.

Background: Kidney size evaluation is an essential examination in pediatric nephrology. While body length/height is the best predictor of kidney length, age-based and body surface area (BSA)-based normative values may be useful in clinical practice or research. This study aimed to establish ultrasound-based kidney length lambda-mu-sigma (LMS) percentiles by age and BSA in healthy children.

Performance measures for colonoscopy in inflammatory bowel disease patients: European Society of Gastrointestinal Endoscopy (ESGE) Quality Improvement Initiative.

The European Society of Gastrointestinal Endoscopy (ESGE) presents a short list of performance measures for colonoscopy in inflammatory bowel disease (IBD) patients. Current performance measures for colonoscopy mainly focus on detecting (pre)malignant lesions. However, these performance measures are not relevant for all colonoscopy indications in IBD patients.

An expert opinion of the Polish Cardiac Society Working Group on Pulmonary Circulation on screening for chronic thromboembolic pulmonary hypertension patients after acute pulmonary embolism: Update.

Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare complication of acute pulmonary embolism (APE). Both pharmacological and invasive treatments for CTEPH are available in Poland, and awareness of the disease among physicians is growing. It has been suggested that the COVID-19 pandemic may increase the incidence of CTEPH and facilitate disease detection during more advanced stages of the illness.

Impact of tumor size and location on endoscopic ultrasound-guided sampling of pancreatic neuroendocrine tumors: A recursive partitioning analysis.

Background: Current guidelines provide weak recommendations to treat small (<2 cm) non-functional pancreatic neuroendocrine tumors with low Ki-67 proliferation index either by resection or clinical follow-up. However, there is a lack of consensus regarding the minimal size of pNET, which allows EUS-guided biopsy with high enough diagnostic accuracy for stratification.

Methods: We conducted a retrospective, bicentric analysis of patients who had undergone EUS-guided pNET sampling in two tertiary care Endoscopy Units in Germany and Poland.