Visual pathways functioning in healthy pre-term adolescents: Sex but not gestational age effect.

Background: Visuo-spatial and visuo-perceptual functioning is widely studied in preterm child and is strongly sex-specific. However, little to no data is available regarding male-female differences in preterm children and adolescents and about the interaction effect between sex and preterm birth.

Methods: We studied 30 adolescents born preterm with normal cognitive and clinical neurological outcomes and 34 age-matched controls to investigate the interaction between levels of prematurity and sex in predicting the outcome of visual pathways functioning and to explore the relation between psychophysiological perceptive processing and neuropsychological performance.

Care manager role for older multimorbid heart failure patients' needs in relation to psychological distress and quality of life: a cross-sectional study.

Background: There are few studies investigating patients' needs in healthcare focusing on disease severity and psychological characteristics of elderly heart failure (HF) patients with multimorbidity, specifically addressed by a care manager (CM).

Aims: To explore the role of a CM dealing with elderly multimorbid HF patients' needs/preferences according to NYHA class, ejection fraction, psychological/psychosomatic distress and quality of life (QoL), utilizing a Blended Collaborative Care (BCC) approach (ESCAPE; Grant agreement No 945377).

Methods: Cue cards, self-reported questionnaires, and a semi-structured interview were used to collect data.

On the quaternary structure of human D-3-phosphoglycerate dehydrogenase.

D-3-phosphoglycerate dehydrogenase (PHGDH) catalyzes the NAD-dependent conversion of D-3-phospho-glycerate to 3-phosphohydroxypyruvate, the first step in the phosphorylated pathway for L-serine (L-Ser) biosynthesis. L-Ser plays different relevant metabolic roles in eukaryotic cells: alterations in L-Ser metabolism have been linked to serious neurological disorders. The human PHGDH (hPHGDH), showing a homotetrameric state in solution, is made of four domains, among which there are two regulatory domains at the C-terminus: the aspartate kinase-chorismate mutase-tyrA prephenate dehydrogenase (ACT) and allosteric substrate-binding (ASB) domains.

Correlation between autistic traits and brain functional connectivity in preschoolers with autism spectrum disorder: a resting state MEG study.

Background: Neurophysiological studies recognized that Autism Spectrum Disorder (ASD) is associated with altered patterns of over- and under-connectivity. However, little is known about network organization in children with ASD in the early phases of development and its correlation with the severity of core autistic features.

Methods: The present study aimed at investigating the association between brain connectivity derived from MEG signals and severity of ASD traits measured with different diagnostic clinical scales, in a sample of 16 children with ASD aged 2 to 6 years.

Healthcare needs in elderly patients with chronic heart failure in view of a personalized blended collaborative care intervention: a cross sectional study.

Introduction: Few studies explored healthcare needs of elderly heart failure (HF) patients with comorbidities in view of a personalized intervention conducted by Care Managers (CM) in the framework of Blended Collaborative Care (BCC). The aims of the present study were to: (1) identify perceived healthcare needs/preferences in elderly patients with HF prior to a CM intervention; (2) investigate possible associations between healthcare needs/preferences, sociodemographic variables (age; sex) and number of comorbidities.

Method: Patients aged 65 years or more affected by HF with at least 2 medical comorbidities were enrolled in the study.

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders of the cytosolic iron-sulfur protein assembly system.

Methods: Genetic testing via genome sequencing was applied to identify the underlying disease cause in 3 patients with microcephaly, congenital brain malformations, progressive developmental and neurologic impairments, recurrent infections, and a fatal outcome.

Cerebellar cognitive affective syndrome with long-term features of autism spectrum disorder: evidence in a 9-year-old girl after vermian medulloblastoma surgery.

The time course of socio-communicative disturbances in children after posterior fossa tumor resection is variable in clinical reports, and its assessment may help to understand the role of the cerebellum in the pathogenesis of socio-communicative disorders and improve rehabilitation plans. We report the 3-year cognitive-behavioral follow-up of a female patient (LZ) who underwent surgical ablation of the vermis due to medulloblastoma at age 9. LZ developed a severe post-operative Cerebellar Cognitive Affective Syndrome (CCAS) with cognitive-executive dysfunctions and behavioral alterations resembling an Autism Spectrum Disorder (ASD)-like syndrome.

Association between Infection and Nasal Polyps: A Systematic Review and Meta-Analysis.

Background: () has definite or possible associations with multiple local and distant manifestations. has been isolated from multiple sites throughout the body, including the nose. Clinical non-randomized studies with report discrepant data regarding the association between infection and nasal polyps.

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in Gene.

Netherton syndrome (NS) is a rare autosomal recessive disorder caused by mutations, resulting in a deficiency in its processed protein LEKTI. It is clinically characterized by the triad of congenital ichthyosis, atopic diathesis, and hair shaft abnormalities. The (NM_006846.

Cognitive and Behavioral Outcome of Pediatric Low-Grade Central Nervous System Tumors Treated Only with Surgery: A Single Center Experience.

Background: The present mono-institutional report aimed to describe the cognitive and behavioral outcomes of low-grade central nervous system (CNS) tumors in a cohort of children treated exclusively with surgical intervention.

Methods: Medical records from 2000-2020 were retrospectively analyzed. We included 38 children (mean age at first evaluation 8 years and 3 months, 16 females) who had undergone presurgical cognitive-behavioral evaluation and/or at least 6 months follow-up.

Integrated care for older multimorbid heart failure patients: protocol for the ESCAPE randomized trial and cohort study.

Escape: Evaluation of a patient-centred biopsychosocial blended collaborative care pathway for the treatment of multimorbid elderly patients.

Therapeutic Area: Healthcare interventions for the management of older patients with multiple morbidities.

Aims: Multi-morbidity treatment is an increasing challenge for healthcare systems in ageing societies.

Circumscribed Morphea of the Scalp: An Entity to Be Considered in the Differential Diagnosis of Cicatricial Alopecia.

Introduction: Morphea, also known as localized scleroderma, could affect the head and neck region, mainly manifesting in a linear pattern. Localized scleroderma of the scalp presenting as a circumscribed alopecic patch has been described as an unusual clinical entity. We present a new case of circumscribed morphea of the scalp.

Task-related functional neuroimaging contribution to sex/gender differences in cognition and emotion during development.

Recent research has shown that sex/gender (s/g) influences on cognitive functions and related brain anatomy, functional responses, and connectivity are less clear than previously assumed, and most studies investigated adult population. In this mini-review, we summarize research progress in the study of s/g differences in the human brain function as investigated by neuroimaging methods adopting a developmental perspective. In particular, we review original studies published from 2000 to 2021 investigating s/g differences in task-related brain functional activation and connectivity in healthy children and adolescents.

Disseminated superficial actinic porokeratosis following hydroxyurea treatment: A case report.

Porokeratosis encompass a group of acquired and familial, preneoplastic, keratinization disorders, clinically characterized by atrophic macules or patches with a peripheral keratotic rim, the cornoid lamella. Genetic background is recognized as crucial in its pathophysiology, while immunosuppression and ultraviolet radiation represent triggering factors. We report the case of a woman who developed disseminate superficial actinic porokeratosis following the intake of hydroxyurea for a polycythaemia vera.

Primary syphilis of the finger: report of four cases.

Although primary syphilis generally involves the genitalia, literature reports that 12% of chancres are extragenital, with the anus and oral cavity as the most frequent locations. We present hereby a case series of four chancres of the finger observed at the sexually transmitted infection centre of Milan between 2010 and 2021.

Sex and gender difference in cognitive and behavioral studies in developmental age: An introduction.

This paper introduces a special issue focused on sex and gender (s/g) cognitive/behavioral differences at developmental ages providing an overview of this multifaceted and debated topic. It will provide a description of the biological systems that are strongly interconnected to generate s/g differences, that is, genetic determinants, sex hormones, differences in brain structure, organization, and/or function, inherited or modifiable under environmental pressures. Developmental studies are rare.

Perceptions of Diabetes Technology Use in Cystic Fibrosis-Related Diabetes Management.

Diabetes technologies are associated with improvements in glycemic control and health-related quality of life among people with type 1 diabetes (T1D). Use and perceptions of continuous glucose monitors (CGM) and insulin pumps within the cystic fibrosis (CF) community have not been well studied. A 30-item online survey addressing cystic fibrosis-related diabetes (CFRD) diagnosis, CGM and insulin pump use, and perceptions of diabetes technologies was sent to a CF community group, including people with CF (pwCF) and parents of children with CF (cwCF).

Sex influences on the neurocognitive outcome of preterm children.

This article presents a revision of the literature regarding the influence of sex differences on the recovery and long-term behavioral and cognitive outcomes of preterm children. After initial discussion of some methodological concerns, the literature regarding the concept of "male disadvantage," which is often used when talking about early neurological and psychomotor outcomes in preterm children, is presented. Subsequently, the literature data on sex-related differences in preterm children are discussed, focusing on their influence on the developmental pathways of cognition, language, executive function, behavior and affect, and response to rehabilitation therapies.