Cognitive changes and brain structural abnormalities in female carriers of DMD pathogenic variants.

Background: Skeletal and cardiac muscle damage have been increasingly recognized in female carriers of DMD pathogenic variants (DMDc). Little is known about cognitive impairment in these women or whether they have structural brain damage.

Objective: To characterize the cognitive profile in a Brazilian cohort of DMDc and determine whether they have structural brain abnormalities using multimodal MRI.

Expanding the diversity of origin of transfer-containing sequences in mobilizable plasmids.

Conjugative plasmids are important drivers of bacterial evolution. Most plasmids lack genes for conjugation and characterized origins of transfer (oriT), which has hampered our understanding of plasmid mobility. Here we used bioinformatic analyses to characterize occurrences of known oriT families across 38,057 plasmids, confirming that most conjugative and mobilizable plasmids lack identifiable oriTs.

Retrospective review of growth in pediatric intestinal failure after weaning from parenteral nutrition.

Background: Growth outcomes in children with intestinal failure (IF) after weaning from parenteral nutrition (PN) may be modified by primary diagnosis and interventions aimed at achieving enteral tolerance. We evaluated growth after weaning by diagnosis and intestinal transplant status and during treatment with the glucagon-like peptide-2 analog teduglutide.

Methods: A two-center retrospective review was conducted on children diagnosed with IF at age <12 months.

Adherence to Mediterranean Diet and Health Outcomes in Adolescents: An Umbrella Review.

Context: Proper nutrition represents 1 of the domains of adolescents' well-being. In this context, the Mediterranean diet (MD), as a healthy, traditional, and sustainable dietary pattern, plays a crucial role in promoting adequate growth and preventing chronic noncommunicable diseases.

Objective: The currently available evidence on the effects of adherence to the MD (AMD) in association with several physical health outcomes in adolescence is summarized in this review.

High Concentrations of Immunoglobulin G Against Cow Milk Proteins and Frequency of Cow Milk Consumption Are Associated With the Development of Islet Autoimmunity and Type 1 Diabetes-The Trial to Reduce Insulin-dependent Diabetes Mellitus (IDDM) in the Genetically at Risk (TRIGR) Study.

Background: The Trial to Reduce IDDM in the Genetically at Risk (TRIGR) (NCT00179777) found no difference type 1 diabetes risk between hydrolyzed and regular infant formula. However, cow milk consumption during childhood is consistently linked to type 1 diabetes risk in prospective cohort studies.

Objectives: Our primary aim was to study whether humoral immune responses to cow milk and cow milk consumption are associated with type 1 diabetes in TRIGR children.

Adherence to Mediterranean Diet and its main determinants in a sample of Italian adults: results from the ARIANNA cross-sectional survey.

Introduction: Over the last years, many Mediterranean countries, including Italy, have witnessed a shift away from the Mediterranean Diet, thus contributing to the high rates of overweight and obesity. The survey "Adherence to Mediterranean Diet in Italy (ARIANNA)" aimed to evaluate the Adherence to Mediterranean Diet (AMD) and its main determinants in the Italian population.

Materials And Methods: This study started on March 2023 and was addressed to adults aged ≥17 years, born and resident in Italy, proficient in Italian.

Capsules and their traits shape phage susceptibility and plasmid conjugation efficiency.

Bacterial evolution is affected by mobile genetic elements like phages and conjugative plasmids, offering new adaptive traits while incurring fitness costs. Their infection is affected by the bacterial capsule. Yet, its importance has been difficult to quantify because of the high diversity of confounding mechanisms in bacterial genomes such as anti-viral systems and surface receptor modifications.

Choosing the proper implant for extra-articular fractures of proximal phalanges: A study on 75 cases.

Introduction: Phalangeal fractures are the most common fractures of the hand and in particular the proximal phalanx of the long fingers is the most involved. These fractures can ben conservatively managed but, when the fracture pattern is considered unstable, surgical treatment is recommended. However, there is no consensus in literature about the proper surgical option for extra-articular proximal phalanx fractures.

Early post-surgical rehabilitation and functional outcomes of a traumatic ulnar nerve injury: a pediatric case report.

Background: Peripheral nerve injuries (PNIs) of the upper limb are very common events within the pediatric population, especially following soft tissue trauma and bone fractures. Symptoms of brachial plexus nerve injuries can differ considerably depending on the site and severity of injury. Compared to median and radial nerves, the ulnar nerve (UN) is the most frequently and severely injured nerve of the upper extremity.

Adherence to Mediterranean Diet and Food Neophobia Occurrence in Children: A Study Carried out in Italy.

Food Neophobia (FN), defined as the reluctance to eat new or unfamiliar foods, mainly concerns fruit, vegetables, and legumes, typical of the Mediterranean Diet (MD). Considering these premises, this study aimed to clarify the relationship between FN and AMD in a sample of Italian children and their association with some socio-demographic factors and children's nutritional status. A sample of 288 children aged 3-11 years participated in an assessment carried out with a questionnaire evaluating FN and AMD, respectively, with the Child Food Neophobia Scale (CFNS) and the KIDMED test.

Biological Prosthesis (Hollow 3D-Printed Titanium Custom-Made Prosthesis and Bone Graft) for Humeral Reconstruction in Pediatric Oncologic Patients: Surgical Indications and Results.

This study presents the mid-term outcomes of a novel "biological prosthesis" for pediatric humerus reconstruction after major bone tumor removal. This approach involves a hollow 3D-printed titanium custom-made prosthesis combined with bone grafting. The primary aim was to preserve and revitalize the unaffected autologous proximal or distal humeral stump.

Nutrition support considerations in pediatric small bowel transplantation.

Enteral autonomy is the primary goal of intestinal failure therapy. Intestinal transplantation (ITx) is an option when enteral autonomy cannot be achieved and management complications become life-threatening. The purpose of this review is to summarize existing medical literature related to nutrition requirements, nutrition status, and nutrition support after pediatric ITx.

F-waves persistence in peripheral sensory syndromes.

Background: The distinction between sensory neuronopathies (SN), which is by definition purely sensory, and sensory polyneuropathies (SP) and sensory multineuropathies (SM) is important for etiologic investigation and prognosis estimation. However, this task is often challenging in clinical practice. We hypothesize that F-wave assessment might be helpful, since it is able to detect subtle signs of motor involvement, which are found in SP and SM, but not in SN.

Emergence of novel non-aggregative variants under negative frequency-dependent selection in .

is an emergent human pathogen causing diverse infections, some of which in the urinary tract. However, little is known about the evolution and maintenance of genetic diversity in this species, the molecular mechanisms and their population dynamics. Here, we characterized the emergence of a novel rdar-like (ough and ry) morphotype which is contingent both on the genetic background and the environment.

Autonomic function in sporadic and familial ALS type 8.

Objective: To characterize and compare autonomic function in patients with sporadic (sALS) and familial ALS type 8 (fALS8).

Methods: We selected 11 patients with sALS (7 men), 14 with fALS8 (8 men) and 26 controls (15 men). All groups were gender and age-matched.

Latent evolution of biofilm formation depends on life-history and genetic background.

Adaptation to one environment can often generate phenotypic and genotypic changes which impact the future ability of an organism to thrive in other environmental conditions. In the context of host-microbe interactions, biofilm formation can increase survival rates in vivo upon exposure to stresses, like the host's immune system or antibiotic therapy. However, how the generic process of adaptation impacts the ability to form biofilm and how it may change through time has seldomly been studied.

Effectiveness of a Novel Tablet Application in Reducing Guideline Deviations During Pediatric Cardiac Arrest: A Randomized Clinical Trial.

Importance: Deviations from international resuscitation guidelines during the management of pediatric cardiac arrest are frequent and affect clinical outcomes. An interactive tablet application (app), PediAppRREST, was developed to reduce guideline deviations during pediatric cardiac arrest.

Objective: To assess the effectiveness of PediAppRREST in improving the management of simulated in-hospital pediatric cardiac arrest.

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.

In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication.

Morphometric and genetic characterization as tools for selection of (Hymenoptera: Apidae) stocks in an area of natural hybridization in Argentina.

Beekeepers around the world select bees' characteristics that facilitate and favor production. In regions where hybridization among lineages is taking place, this selection is a challenge, given that these regions are "natural laboratories", where the action of evolutionary processes of a population or species occurs in real time. A natural honeybee () hybrid zone exists in Argentina between 28° and 35° South, where Africanized (AHB) and European (EHB) populations converge.

The impact of COVID-19 pandemic on food habits and neophobia in children in the framework of the family context and parents' behaviors: A study in an Italian central region.

Objective: This paper aims to evaluate whether changes in lifestyle and eating habits resulting from the Covid-19 emergency have influenced the post-pandemic level of food neophobia and in children living in an Italian central region.

Methods: A sample of 99 children took part in a retrospective assessment carried out with a self-administrated questionnaire. Pre and post-pandemic evaluation of eating habits, physical activity, and lifestyle indicators was carried out.

Convalescent or standard plasma versus standard of care in the treatment of COVID-19 patients with respiratory impairment: short and long-term effects. A three-arm randomized controlled clinical trial.

Background: The efficacy of early treatment with convalescent plasma in patients with COVID-19 is debated. Nothing is known about the potential effect of other plasma components other than anti-SARS-CoV-2 antibodies.

Methods: To determine whether convalescent or standard plasma would improve outcomes for adults in early phase of Covid19 respiratory impairment we designed this randomized, three-arms, clinical trial (PLACO COVID) blinded on interventional arms that was conducted from June 2020 to August 2021.

Dysautonomia in RFC1-related disorder: Clinical and neurophysiological evaluation.

Objective: To characterize and quantify autonomic involvement in patients with RFC1-related disorder of adult-onset cerebellar ataxia and idiopathic sensory neuropathy.

Methods: We enrolled 16 subjects with biallelic RFC1 (AAGGG)n expansions and 16 age and sex-matched healthy controls that underwent comprehensive clinical and neurophysiological evaluation. Scales for Outcomes in Parkinson's Disease Autonomic Dysfunction (SCOPA-AUT) score was used to assess autonomic symptoms.