Respiratory Viruses in Patients With Hematological Malignancy in Boreal Autumn/Winter 2023-2024: EPICOVIDEHA-EPIFLUEHA Report.

Community-acquired respiratory viral infections (CARV) significantly impact patients with hematological malignancies (HM), leading to high morbidity and mortality. However, large-scale, real-world data on CARV in these patients is limited. This study analyzed data from the EPICOVIDEHA-EPIFLUEHA registry, focusing on patients with HM diagnosed with CARV during the 2023-2024 autumn-winter season.

Clinical impact of ceftazidime/avibactam on the treatment of suspected or proven infections in a large cohort of patients with haematological malignancies: a multicentre observational real-world study.

Objectives: To evaluate clinical impact of ceftazidime/avibactam on treating infections due to MDR Gram-negative bacteria in patients with haematological malignancies (HMs).

Methods: We conducted a retrospective, observational study at 17 Italian haematological wards that included patients with HMs receiving ceftazidime/avibactam for the treatment of suspected or proven infections. The primary endpoint was all-cause mortality 30 days after infection onset.

ACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy.

A heterozygous gain-of-function variant in the acyl-CoA oxidase 1 (ACOX1) gene, c.710A>G (p.Asn237Ser), is known to cause Mitchell syndrome, a very rare progressive disorder characterized by episodic demyelination, sensory polyneuropathy, and hearing loss.

Epileptic nystagmus as clinical manifestation of self-limited focal epilepsy: Rethinking etiology and prognostic value and literature review.

Epileptic nystagmus (EN) is an uncommon ictal clinical manifestation characterized by rapid, repetitive eyeballs movements. Few cases of EN have been reported and, in most cases, electro-clinical correlation showed a focal EEG activity, mainly in the occipital and temporo-occipital areas. Although EN occurs both in idiopathic and non-idiopathic epilepsy, the most frequent cause appears to be inborn or acquired alteration of brain structures.

Children with Cerebral Palsy can imagine actions like their normally developed peers.

The present study aimed at assessing whether children with Cerebral Palsy (CP) can imagine object directed actions similarly to their normally developed peers. We asked children with CP ( = 12) and paired healthy controls ( = 12) to imagine in first person perspective eight daily actions, after observing them through videoclips presented on a computer screen. During motor imagery (MI) children were interrupted at a specific timepoint (e.

Repetitive and stereotyped behaviors in neurodevelopmental disorders: an observational analysis of four diagnostic groups.

Background: Repetitive and Stereotyped Behaviors (ST) are one of the key features of autism spectrum disorder (ASD) and they frequently occur in children with developmental delay/intellectual disability or sensory deprivation, but they are also described in children otherwise typical. This study aims to describe and compare ST in children with different neurodevelopmental disorders and in children having stereotypies but no other medical diagnosis (primary stereotypies).

Methods: The study sample comprised children with autism spectrum disorder (ASD) developmental delay (DD), severe visual impairment (VI) and primary stereotypies (PS), aged between 2 and 12 years old.

Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.

Cerebral folate transporter deficiency syndrome, caused by FOLR-1 mutations is characterized by late infantile onset, severe developmental regression, epilepsy, and leukodystrophy. An extremely low concentration of 5-methyltetrahydrofolate in the cerebrospinal fluid provides a crucial clue to its diagnosis and is a treatment target. Oral or intravenous folinic acid (5-formyltetrahydrofolate) administration improves clinical symptoms and brain magnetic resonance imaging (MRI) findings.

Rett Syndrome as a movement and motor disorder - A narrative review.

Unlabelled: Rett syndrome (RTT) is neurodevelopmental disorder affecting approximately 1:10000-15000 live female births, commonly associated with MECP2 gene mutations. Hand stereotypies and gait disturbance, as well as spasticity and dystonia, were noted in RTT since first descriptions. This review aimed to explore the prevalence of reported movement disorders in RTT.

MeDuSa: a multi-draft based scaffolder.

Motivation: Completing the genome sequence of an organism is an important task in comparative, functional and structural genomics. However, this remains a challenging issue from both a computational and an experimental viewpoint. Genome scaffolding (i.

PARPST: a PARallel algorithm to find peptide sequence tags.

Background: Protein identification is one of the most challenging problems in proteomics. Tandem mass spectrometry provides an important tool to handle the protein identification problem.

Results: We developed a work-efficient parallel algorithm for the peptide sequence tag problem.