Dysphagia in Rare Diseases and Syndromes: Current Approaches to Management and Therapeutic Innovations-A Systematic Review.

This study presents a comprehensive investigation into the correlation between Rare Diseases and Syndromes (RDS) and the dysphagic disorders manifested during childhood and adulthood in affected patients. Dysphagia is characterized by difficulty or an inability to swallow food of any consistency, as well as saliva or medications, from the oral cavity to the stomach. RDS often present with complex and heterogeneous clinical manifestations, making it challenging to develop standardized diagnostic and therapeutic approaches.

Lymphatic leaks - success of intranodal lymphangiogram first strategy.

Background: Lymphatic leaks are associated with significant mortality and morbidity. Intranodal lymphangiography (ILAG) involves the direct injection of ethiodised lipid into the hilum of lymph nodes. It is diagnostic procedure that can have therapeutic effects secondary to a local sclerosant effect.

A meta-analysis of epigenome-wide association studies of ultra-processed food consumption with DNA methylation in European children.

Background/objective: There is limited knowledge on how diet affects the epigenome of children. Ultra-processed food (UPF) consumption is emerging as an important factor impacting health, but mechanisms need to be uncovered. We therefore aimed to assess the association between UPF consumption and DNA methylation in children.

Reliability of the Italian Version of the Fugl-Meyer Upper Extremity Scale Administered Remotely.

Despite the increase in home-based rehabilitation, outcome measures for telerehabilitation are still underdeveloped. The Fugl-Meyer Assessment (FMA) is one of the most widely used tools for evaluating post-stroke motor deficits, with the upper extremity component (FMA-UE) recommended for assessing motor deficits of the arm. This study aims to examine the intrarater and interrater reliability of the Italian version of the FMA-UE, administered remotely via video conferencing during a robotic telerehabilitation program.

Exploring Pediatric Dermatology in Skin of Color: Focus on Dermoscopy.

This literature review aims to comprehensively evaluate the clinical and dermoscopic presentations of common pediatric diseases among children with skin of color (SoC) while also addressing potential variations based on racial backgrounds. This review encompasses various conditions, such as nevi subtypes, viral infections, infestations, and inflammatory dermatoses, as well as hair diseases and abnormal vascular formations, occurring in pediatric populations. Overall, we identified 7 studies on nevi subtypes, 24 studies on skin infections, 6 on inflammatory dermatoses, 10 on hair diseases and disorders, and 14 on miscellaneous disorders that also satisfied our SoC- and race-specific criteria.

Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide.

A specific deletion on the short arm of chromosome 5 (5p) is the hallmark of the rare genetic syndrome called Cri du Chat Syndrome (CdCS). It causes severe difficulty with swallowing, speech, motor skills, and cognitive deficiencies. These arise from characteristic laryngeal abnormalities and oral-motor dysfunctions.

Effect of an Exercise Intervention Program on BMI and Distance Covered in the 6 Min Walking Test (6MWT) in Obese Children.

Background/objectives: Childhood obesity appears to be an alarmingly growing global threat. Current evidence has shown that obesity can be successfully managed with interventions targeting movement skills, motor coordination and physical activity. However, data concerning physiotherapy practice are limited.

Isolation and characterization of a new Leptobacillium species promoting tomato plant growth.

Endophytes can be a promising alternative for sustainable agronomic practices. In this study, we report for the first time a root-colonizing fungal strain (Sl27) of the genus Leptobacillium as a tomato (Solanum lycopersicum) endophyte, with no clear homology to any known species. Performed analyses and assays, including morphological and physiological characterization of the fungal isolate, provided insights into the ecological niche and potential agronomical and industrial applications of the fungal isolate.

Strict vegetarian diet and pregnancy outcomes: A systematic review and meta-analysis.

Introduction: The increasing adoption of strict vegetarian diets during pregnancy has raised concerns about their effects on maternal and neonatal outcomes. This systematic review and meta-analysis aimed to assess the impact of strict vegetarian diets on key pregnancy outcomes, including neonatal birth weight, small-for-gestational-age (SGA) infants, gestational diabetes mellitus (GDM), hypertensive disorders, and gestational weight gain (GWG).

Methods: A comprehensive literature search across multiple databases yielded eight studies from various countries, involving a total of 72,284 participants.

A 3-dimensional comparative assessment of the dentoskeletal effects of clear aligners vs temporary skeletal anchorage device-assisted posterior intrusion in adolescents with anterior open bite: A single-center, retrospective, cohort study.

Introduction: The dentoskeletal effects of clear aligner treatment (CAT) with Invisalign vs temporary skeletal anchorage device-anchored Sydney intrusion spring (SIS) were compared in consecutively treated growing patients with anterior open bite using cone-beam computed tomography scans.

Methods: Fifteen adolescents treated exclusively with Invisalign, and 14 with SIS (first-phase treatment) were assessed retrospectively. Rigid-wise, voxel-based registration of pretreatment and posttreatment cone-beam computed tomography scans were performed using the anterior cranial base, maxillary plane, and mandibular body as reference regions.

Implementing digital respiratory technologies for people with respiratory conditions: A protocol for a scoping review.

The value of 'data-enabled', digital healthcare is evolving rapidly, as demonstrated in the COVID-19 pandemic, and its successful implementation remains complex and challenging. Harmonisation (within/between healthcare systems) of infrastructure and implementation strategies has the potential to promote safe, equitable and accessible digital healthcare, but guidance for implementation is lacking. Using respiratory technologies as an example, our scoping review process will capture and review the published research between 12th December 2013 to 12th December 2023.

Childhood Mediterranean Diet Compliance Is Associated with Lower Incidence of Childhood Obesity, Specific Sociodemographic, and Lifestyle Factors: A Cross-Sectional Study in Children Aged 6-9 Years.

Background: Mediterranean diet (MD) constitutes a commonly examined dietary model. It includes a plethora of bioactive ingredients with strong antioxidant, anti-inflammatory, antithrombotic and anticancer properties. Several substantial studies support strong evidence that MD can exert preventing actions against human morbidity and mortality, promoting human well-being and quality of life.

Challenges in Differential Diagnosis of Diffuse Gingival Enlargement: Report of Two Representative Cases and Literature Review.

The etiology of diffuse gingival enlargement is multifactorial, and the definitive diagnosis may be challenging. To highlight the nuances of the differential diagnosis, we present two cases of generalized gingival overgrowth and discuss the diagnostic dilemmas. In the first case, an 82-year-old male with a medical history of hypertension and prostatitis had a chief complaint of symptomatic oral lesions of a 20-day duration, accompanied by fever and loss of appetite.

A case of complete remission of glucocorticoid-dependent nephrotic syndrome after TRF-budesonide treatment in a patient with mild mesangial proliferative IgA nephropathy.

The combination of nephrotic syndrome with mild histopathological lesions of IgA nephropathy is considered by some as a special form of IgA nephropathy with superimposed minimal change disease (MCD) while by others as coincidental deposition of IgA in patients with MCD (MCD-IgAN). We present the first case of complete remission of nephrotic syndrome in a 55-year-old man with MCD-IgAN after the administration of targeted-release formulation of budesonide (TRF-budesonide). The patient's treatment with TRF-budesonide, even though methylprednisolone, mycophenolate mofetil, and cyclophosphamide had been previously tried, is of particular importance because it not only suggests that TRF-budesonide appears to be a promising treatment for MCD-IgAN but may also provide a new therapeutic option for patients with podocytopathies.

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.

Renal survival and treatment of adult patients with Primary Focal Segmental glomerulosclerosis: A historical cohort study of the National Greek Registry.

Background/objective: Primary Focal and Segmental glomerulosclerosis (FSGS) is one of the most common causes of idiopathic nephrotic syndrome. Our aim was to describe a large cohort of patients with primary FSGS, identify risk factors associated with worse renal survival and assess the impact of different immunosuppressive regiments on renal survival.

Methods: This was a historical cohort study of adults who were diagnosed with primary FSGS from March 26, 1982, to September 16, 2020.

Incidence, characteristics and outcome of therapy-related myeloid neoplasms in women with epithelial ovarian cancer after exposure to poly-ADPribose polymerase inhibitors: A cancer center experience.

Poly(ADP-ribose) polymerase inhibitors (PARPi) target the DNA repair pathways and have been established in epithelial ovarian cancer (EOC) as maintenance therapy inducing prolonged survival. However, recently published data showed that PARPi may increase the risk of therapy-related myeloid neoplasms (t-MN) including myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). Herein, we investigated the incidence, characteristics, and management of t-MN among EOC patients after exposure to PARPi in a Greek Cancer Center.

Thin and Flexible PANI/PMMA/CNF Forest Films Produced via a Two-Step Floating Catalyst Chemical Vapor Deposition.

In this paper, we explore a straightforward two-step method to produce high-purity, vertically aligned multi-walled carbon nanofibres (MWCNFs) via chemical vapor deposition (CVD). Two distinct solutions are utilized for this CVD method: a catalytic solution consisting of ferrocene and acetonitrile (ACN) and a carbon source solution with camphor and ACN. The vapors of the catalytic solution inserted in the reaction chamber through external boiling result in a floating catalyst CVD approach that produces vertically aligned CNFs in a consistent manner.

An Unbiased Approach to Identifying Cellular Reprogramming-Inducible Enhancers.

Cellular reprogramming of somatic cells towards induced pluripotency is a multistep stochastic process mediated by the transcription factors Oct4, Sox2, Klf4 and c-Myc (OSKM), which orchestrate global epigenetic and transcriptional changes. We performed a large-scale analysis of integrated ChIP-seq, ATAC-seq and RNA-seq data and revealed the spatiotemporal highly dynamic pattern of OSKM DNA binding during reprogramming. We found that OSKM show distinct temporal patterns of binding to different classes of pluripotency-related enhancers.

Affectivity as stance: multimodal stance-taking in audiovisual documentations of Polish and German parliamentary debates.

This paper presents a media-aesthetic framework to study affectivity as a stance. This framework opens up a new perspective on multimodal affective stance-taking in the context of specific media ecologies. It exemplifies this new approach with case studies of the official audiovisual documentation of political debates in the German Bundestag and the Polish Sejm.

Pregabalin for Neuropathic Pain in Post-radiotherapy Head and Neck Cancer Patients: A Retrospective Study and Review of the Literature.

Introduction: Head and neck cancer (HNC) patients may experience neuropathic pain (NP) due to radiotherapy (RT), which may become chronic. Pregabalin, an anticonvulsant, alters the transmission of painful stimuli at the synaptic level, modifying their perception. Pregabalin is used in NP treatment, but limited data exist on RT-treated HNC patients.

Redefining Diagnostic Cut-Offs for the Indirect Water Deprivation Test.

Objective: An incorrect diagnosis of arginine vasopressin deficiency and resistance (AVP-D and AVP-R) results in the potentially dangerous use of desmopressin in healthy individuals. The water deprivation test is a central diagnostic test in patients with polydipsia polyuria syndrome (PPS). This study aims to determine the effectiveness of the current interpretation of reference ranges.

Autoimmune-Like Mechanism in Heart Failure Enables Preventive Vaccine Therapy.

Background: Heart failure (HF) is strongly associated with inflammation. In pressure overload (PO)-induced HF, cardiac stress triggers adaptive immunity, ablation or inhibition of which blocks disease progression. We hypothesized that PO-HF might fulfill the often-used criteria of autoimmunity: if so, the associated adaptive immune response would be not only necessary but also sufficient to induce HF; it should also be possible to identify self-antigens driving the autoimmune response.

Antioxidant and anti-inflammatory properties of water kefir microbiota and its bioactive metabolites for health promoting bio-functional products and applications.

Inflammation and oxidative stress are implicated in several chronic disorders, while healthy foods and especially fermented beverages and those containing probiotics can provide anti-inflammatory and antioxidant protection against such manifestations and the associated disorders. Water kefir is such a beverage that is rich in both probiotic microbiota and anti-inflammatory bioactives, with an increasing demand as an alternative to a fermented product based on non-dairy matrix with potential health properties. Within this study, the health-promoting properties of the most representative species and strains of microorganisms present in water kefir grains, as well as the health benefits attributed to the bioactive metabolites produced by each individual strain in a series of their cultures, were thoroughly reviewed.