Targeted and Self-Adjuvated Nanoglycovaccine Candidate for Cancer Immunotherapy.

Advanced-stage solid primary tumors and metastases often express mucin 16 (MUC16), carrying immature glycans such as the Tn antigen, resulting in specific glycoproteoforms not found in healthy human tissues. This presents a valuable approach for designing targeted therapeutics, including cancer glycovaccines, which could potentially promote antigen recognition and foster the immune response to control disease spread and prevent relapse. In this study, we describe an adjuvant-free poly(lactic--glycolic acid) (PLGA)-based nanoglycoantigen delivery approach that outperforms conventional methods by eliminating the need for protein carriers while exhibiting targeted and adjuvant properties.

Exosomal glypican-1 is elevated in pancreatic cancer precursors and can signal genetic predisposition in the absence of endoscopic ultrasound abnormalities.

Background: Individuals within specific risk groups for pancreatic ductal adenocarcinoma (PDAC) [mucinous cystic lesions (MCLs), hereditary risk (HR), and new-late onset diabetes mellitus (NLOD)] represent an opportunity for early cancer detection. Endoscopic ultrasound (EUS) is a premium image modality for PDAC screening and precursor lesion characterization. While no specific biomarker is currently clinically available for this purpose, glypican-1 (GPC1) is overexpressed in the circulating exosomes (crExos) of patients with PDAC compared with healthy subjects or those harboring benign pancreatic diseases.

Importance of an echocardiogram in the evaluation of ataxia.

We present the case of a boy in his middle childhood with gait ataxia and loss of reflexes with a 1-year onset. He had a background of an autism spectrum disorder but was otherwise healthy. A paediatric cardiology assessment was requested to investigate possible cardiac involvement associated to his neurological symptoms.

Posterior reversible encephalopathy syndrome: characteristics, diagnostic accuracy, prognostic factors and long-term outcome in a paediatric population.

Posterior reversible leukoencephalopathy syndrome (PRES) is a rare entity among children, characterised by acute neurological symptoms and radiological findings. The role of clinical symptoms and neuroimaging in predicting the prognosis of PRES have not been well-characterised. A retrospective descriptive study of children with PRES, admitted to a Paediatric Intensive Care Unit during a 10-year period, was performed to describe its characteristics, compare the accuracy of computed tomography (CT) scan and MRI on diagnosis and identify prognostic factors on paediatric population.

Pediatric cerebral sinus venous thrombosis: clinical characterization of a Portuguese cohort.

Introduction: Pediatric cerebral sinus venous thrombosis (CSVT) is a rare entity. Risk factors differ from the adults, and treatment is not consensual. With this work, we aimed to characterize a pediatric cohort from two Portuguese tertiary centers.

A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies.

Objective: Clinical care of rare and complex epilepsies is challenging, because evidence-based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The pathomechanisms of rare epilepsies are, however, increasingly understood, which potentially fosters novel targeted therapies. The objectives of our survey were to obtain an overview of the clinical practice in European tertiary epilepsy centers treating patients with 5 arbitrarily selected rare epilepsies and to get an estimate of potentially available patients for future studies.

The Interplay of Exosomes and NK Cells in Cancer Biology.

Natural killer (NK) cells are innate lymphoid cells involved in tumor surveillance. These immune cells have the potential to fight cancer growth and metastasis, as such, their deregulation can result in tumor immune escape. Recently exosomes were described as mediators of intercellular communication between cancer and NK cells.

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

Trafficking protein particle (TRAPP) complexes, which include the TRAPPC4 protein, regulate membrane trafficking between lipid organelles in a process termed vesicular tethering. TRAPPC4 was recently implicated in a recessive neurodevelopmental condition in four unrelated families due to a shared c.454+3A>G splice variant.

[Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic Diagnosis].

Introduction: Epileptic encephalopathies of childhood are characterized by early seizure-onset and adverse neurological outcomes. The development of new genetic techniques has allowed an exponential identification of the genes that are involved. Over the last years, we have observed a revolution in the diagnostic paradigm.

Evaluation of ultra-rapid susceptibility testing of ceftolozane-tazobactam by a flow cytometry assay directly from positive blood cultures.

The urgent need for rapid antimicrobial susceptibility is broadly apparent from government reports to the lay press. Accordingly, we developed a flow-cytometry assay (FCM) for evaluating ceftolozane-tazobactam (C/T) susceptibility directly on blood cultures (BC) requiring < 2 h from flag positivity to report. The protocol was optimized with C/T-susceptible and C/T-resistant gram-negative bacilli inoculated in BC aerobic bottles (Becton-Dickinson, USA), and afterward optimized for different C/T concentrations (1/4, 2/4, 4/4, and 8/4 mg/L) for 1 h incubation (37 °C), followed by FCM and software analysis.

NGLY1 deficiency-A rare congenital disorder of deglycosylation.

Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transaminases, and alacrima or hypolacrima. To date, only few cases of NGLY1 deficiency have been identified and reported in the literature. This report highlights a first child of non-consanguineous parents with no relevant family history who presented with hypotonia and poor weight gain since birth.

Anterior Limb of Internal Capsule and Bed Nucleus of Stria Terminalis Stimulation for Gilles de la Tourette Syndrome with Obsessive-Compulsive Disorder in Adolescence: A Case of Success.

Gilles de la Tourette syndrome (GTS) is a neurobehavioral disorder comprising motor and vocal tics. In most cases it is associated with other disorders such as obsessive-compulsive disorder (OCD). In refractory cases deep brain stimulation (DBS) is a valid treatment option.

Extensive linear scleroderma en coup de sabre with exertion-induced hemiplegic migraine.

We report the case of a 9-year-old girl with linear scleroderma en coup de sabre (LSCS) who developed progressive white matter involvement, presenting as intractable hemiplegic migraine-like attacks induced by exercise. After a period of severely aggressive course, clinical and radiological stabilization was achieved under immunosuppressant treatment. Intrathecal synthesis of IgG and lymphocytic pleocytosis provided indirect evidence of a chronic inflammatory process of the central nervous system.

Successful intravenous thrombolysis in a 14-year-old boy with ischemic stroke.

We report a healthy 14-year-old boy with an acute left middle cerebral artery stroke, treated 2 hours after the onset of symptoms with intravenous recombinant tissue plasminogen activator (r-TPA). Recanalization of the middle cerebral artery was documented with transcranial Doppler during the first 5 minutes of intravenous r-TPA perfusion, and progressive recovery of the neurological deficits occurred. Although lack of evidence regarding safety and efficacy in children precludes the recommendation of systematic use of r-TPA in pediatric stroke, we propose that this option should be considered and discussed with the parents, especially in older children presenting within 3 hours in centers with experience in adult thrombolysis.

[Epidemiological survey of bacteria isolated from the respiratory tract of cystic fibrosis patients].

With the aim of characterizing the evolution of the epidemiological profile of respiratory bacterial infections of patients having Cystic Fibrosis (CF), the authors conducted a retrospective analysis about it's incidence and prevalence in 78 CF patients followed at the CF Specialized Centre, Paediatric Department, Santa Maria Hospital, Lisbon, during a 5 years period (1995-1999). Pseudomonas aeruginosa was the most frequently isolated bacteria during the first three years of the study (60-73%), being surpassed by Staphylococcus aureus. However, Pseudomonas aeruginosa always remained the principal agent of chronic colonization (44-59%), with a peak of beginning between 0 and 5 years (34%).