Surface-functionalized PAN fiber membranes for the sensitive detection of airborne specific markers.

PAN fibers are characterized by having a large surface-to-volume ratio and small pores, which are beneficial for applications in filtration and specific molecular detection systems. Naturally, larger items are filtered, and a lower ratio between specific and nonspecific binding is expected since small pores do not allow larger elements to penetrate through membranes; thus, nonspecific binding is enhanced. We prepared and tested fiber membranes (diameter cca 700 nm) functionalized with a specific antibody to prove that even microscopic systems such as bacteria could be specifically identified.

Comparison of the reverse scan technique with an intraoral scanner and the traditional impression technique.

Statement Of Problem: Intraoral scanners have many advantages but have limited applicability for extensive tooth-supported or implant-supported prostheses because of merging errors.

Purpose: The purpose of this study was to compare the reverse scan technique (RST) with an intraoral scanner using the traditional impression technique both in vitro and in vivo.

Material And Methods: A participant was scanned 10 times with an intraoral scanner.

Large gene deletions as a cause of muscular dystrophy and their estimated genesis.

Background: Transport protein particle (TRAPP) is a multiprotein complex that functions in localising proteins to the Golgi compartment. The TRAPPC11 subunit has been implicated in diseases affecting muscle, brain, eye and to some extent liver. We present three patients who are compound heterozygotes for a missense variant and a structural variant in the gene.

Fertility-Preserving Treatments and Patient- and Parental Satisfaction on Fertility Counseling in a Cohort of Newly Diagnosed Boys and Girls with Childhood Hodgkin Lymphoma.

Purpose: The purpose of this study is to evaluate the use of fertility-preserving (FP) treatments and fertility counseling that was offered in a cohort of newly diagnosed children with classical Hodgkin lymphoma (cHL).

Methods: In this observational study, boys and girls with cHL aged ≤ 18 years with scheduled treatment according to the EuroNet-PHL-C2 protocol were recruited from 18 sites (5 countries), between January 2017 and September 2021. In 2023, a subset of Dutch participants (aged ≥ 12 years at time of diagnosis) and parents/guardians were surveyed regarding fertility counseling.

The impact of treatment for childhood classical Hodgkin lymphoma according to the EuroNet-PHL-C2 protocol on serum anti-Müllerian Hormone.

Study Question: What is the impact of the EuroNet-PHL-C2 treatment protocol for children with classical Hodgkin lymphoma (cHL) on gonadal function in girls, based on assessment of serum anti-Müllerian hormone (AMH)?

Summary Answer: Serum AMH levels decreased after induction chemotherapy and increased during subsequent treatment and 2 years of follow-up, with lowest levels in patients treated for advanced stage cHL.

What Is Known Already: Treatment for cHL, particularly alkylating agents and pelvic irradiation, can be gonadotoxic and result in premature reduction of primordial follicles in females. The current EuroNet-PHL-C2 trial aims to reduce the use of radiotherapy in standard childhood cHL treatment, by intensifying chemotherapy.

The difficult PICC insertion is associated with the significant increase of complications in 1 month follow-up.

Background: PICC is routinely inserted with assistance of ultrasonography and/or ECG navigation (RI- routine insertion). Only in a minority of patients the insertion of a PICC is difficult and fluoroscopic visualization with introduction of special guidewire is necessary for the success of the procedure (DI-difficult insertion). The aim of the study was to evaluate whether DI can be predicted and associated with a risk of complications during follow-up.

Disposition of levobupivacaine during intraoperative continuous caudal epidural analgesia in a preterm neonate.

Background: Continuous caudal epidural analgesia used intraoperatively in children is an effective and safe technique. However, in preterm neonates, developmental factors may significantly affect levobupivacaine disposition, leading to variable pharmacokinetics, pharmacodynamics, and potential large-variable systemic toxicity of local anesthetics.

Objective: To our knowledge, this is the first case report describing the disposition of levobupivacaine used for intraoperative caudal epidural analgesia in a preterm neonate treated for the postoperative pain profile.

Vascular supply of postresection pancreatic remnant after pancreaticoduodenectomy: A cadaveric study.

Objectives: The vascular supply to the neck and body of the pancreas is highly variable. The dorsal pancreatic artery is the dominant artery feeding this area. The aim of this study was to describe the vascular supply of postresection pancreatic remnants after pancreaticoduodenectomy.

Reverse scan technique: A verification method for the implant position in intraoral scans.

This article describes a fully digital method of verifying and increasing the accuracy of the position of implants in extensive prosthetic restorations. This cost-effective, timesaving, and versatile procedure uses a laboratory scanner, a scannable implant analog, and a printed interim implant-supported prosthesis to refine the virtual definitive cast.

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

Background And Aim: Gene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis.

Patients And Methods: Both paediatric (n = 33) and adult (n = 18) patients with cholestatic liver disease of unknown aetiology were eligible.

A multi-institutional retrospective pooled outcome analysis of molecularly annotated pediatric supratentorial fused ependymoma.

Background: (formerly known as fused supratentorial ependymoma (fus ST-EPN) has been recognized as a novel entity in the 2016 WHO classification of CNS tumors and further defined in the recent 2021 edition. fus ST-EPN was reported to portend poorer prognosis when compared to its counterpart, ST-EPN in some previously published series. The aim of this study was to determine the treatment outcome of molecularly confirmed and conventionally treated fus ST-EPN patients treated in multiple institutions.

Eighteen years' experience with tumor treating fields in the treatment of newly diagnosed glioblastoma.

Introduction: The prognosis of glioblastoma remains unfavorable. TTFields utilize low intensity electric fields (frequency 150-300 kHz) that disrupt cellular processes critical for cancer cell viability and tumor progression. TTFields are delivered via transducer arrays placed on the patients' scalp.

Integrated genomic analysis reveals actionable targets in pediatric spinal cord low-grade gliomas.

Gliomas are the most common central nervous tumors in children and adolescents. However, spinal cord low-grade gliomas (sLGGs) are rare, with scarce information on tumor genomics and epigenomics. To define the molecular landscape of sLGGs, we integrated clinical data, histology, and multi-level genetic and epigenetic analyses on a consecutive cohort of 26 pediatric patients.

Long-Term Survival of Adult Patients With Atrial Septal Defect With Regards to Defect Closure and Pulmonary Hypertension.

Background: Atrial septal defect (ASD) is the most common congenital heart disease (CHD) in adults and pulmonary hypertension (PH) is an established risk factor. A decision whether to perform ASD closure, especially in elderly patients with PH, is a complex dilemma. The aim of our study was to compare long-term survival in patients with closed and open ASD.

Cardiovascular, Metabolic and Inflammatory Changes after Ovariectomy and Estradiol Substitution in Hereditary Hypertriglyceridemic Rats.

Background: If menopause is really independent risk factor for cardiovascular disease is still under debate. We studied if ovariectomy in the model of insulin resistance causes cardiovascular changes, to what extent are these changes reversible by estradiol substitution and if they are accompanied by changes in other organs and tissues.

Methods: Hereditary hypertriglyceridemic female rats were divided into three groups: ovariectomized at 8th week ( = 6), ovariectomized with 17-β estradiol substitution ( = 6), and the sham group ( = 5).

The dorsal pancreatic artery: A meta-analysis with clinical correlations.

Background/objectives: The dorsal pancreatic artery is the main artery of the body and tail of the pancreas. Its origin and branching is highly variable. The aim of this study was to perform a meta-analysis to generate pooled prevalence data on the presence and origin of the dorsal pancreatic artery.

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development.

Pathogenic sequence variant in the GNAI1 gene were recently introduced as a cause of novel syndrome with a manifestation of variable developmental delay and autistic features. In our study, we report a case of monozygotic twins with severe intellectual disability and motor delay and developmental dysphasia. Both probands and their parents were examined using multi-step molecular diagnostic algorithm including whole-exome sequencing (WES), resulting in the identification of a novel, de novo pathogenic sequence variant in the GNAI1 gene, NM_002069.

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype.

Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness, neurodevelopmental disorder (NDD), midface retrusion, and elliptocytosis. It is thought that ATS-ID is caused by the loss of function of () and FACL4 (ACSL4) genes through the interstitial (micro)deletion of chromosomal band Xq22.

Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy.

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletion or mutation of the gene. It is characterized by a progressive loss of motor neurons resulting in muscle weakness. The disease affects 1 in 11,000 live births and before the era of treatment SMA was a leading genetic cause of mortality in infants.

An unusual fusion gene EML4-ALK in a patient with congenital mesoblastic nephroma.

Congenital mesoblastic nephroma (CMN), the most common renal tumor of infancy, is a mesenchymal neoplasm histologically classified into classic, cellular, or mixed types. Most cellular CMNs harbor a characteristic ETV6-NTRK3 fusion. Here, we report an unusual congenital mesoblastic nephroma presenting in a newborn boy with a novel EML4-ALK gene fusion revealed by Anchored Multiplex RNA Sequencing Assay.

Extremely low birthweight neonates with phenylketonuria require special dietary management.

Aim: Extremely low birthweight (ELBW) neonates require a high protein intake, but this can be challenging in the very rare cases when they also have phenylketonuria (PKU). This is due to a lack of suitable parenteral nutrition or enteral formula. Our aim was to analyse tolerance to phenylalanine in these infants.

Experience with follow-up strategy in selected patients with Warthin tumour diagnosed by ultrasound-guided fine-needle aspiration biopsy (FNAB).

Purpose: Warthin tumour (WT) management options comprise surgery or follow-up. The purpose of this study was to asses our experience with the follow-up strategy in selected patients with an ultrasound-guided fine-needle aspiration biopsy (FNAB) showing WT.

Methods: We performed a retrospective analysis of patients diagnosed with WT using FNAB between 1.